Linked Data
ClinVar Variation Id:
161740
ClinVar RCV Id:
RCV000149276
dbSNP Id:
rs193920846
COSMIC:
COSM1179709
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113834299G>A , CM000673.2:g.113834299G>A | GRCh38 |
| NC_000011.9:g.113705021G>A , CM000673.1:g.113705021G>A | GRCh37 |
| NC_000011.8:g.113210231G>A | NCBI36 |
| NG_051668.1:g.46272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696972.1:c.571C>T | ENSP00000513008.1:p.Leu191Phe | |
| ENST00000696973.1:c.571C>T MANE Select | ENSP00000513009.1:p.Leu191Phe | |
| ENST00000003302.8:c.571C>T | ENSP00000003302.4:p.Leu191Phe | |
| ENST00000537642.1:c.319-742C>T | ENSP00000440799.1:n.319-742C>T | |
| ENST00000537706.5:c.571C>T | ENSP00000445743.1:p.Leu191Phe | |
| ENST00000540438.5:c.*107C>T | ENSP00000441513.1:n.*107C>T | |
| ENST00000542033.5:n.603C>T | ||
| ENST00000545540.5:c.196C>T | ENSP00000444991.1:p.Leu66Phe | |
| NM_001301029.1:c.196C>T | NP_001287958.1:p.Leu66Phe | |
| NM_020886.3:c.571C>T | NP_065937.1:p.Leu191Phe | |
| XM_005271630.2:c.571C>T | XP_005271687.1:p.Leu191Phe | |
| XM_005271631.2:c.571C>T | XP_005271688.1:p.Leu191Phe | |
| XM_005271632.2:c.562C>T | XP_005271689.1:p.Leu188Phe | |
| XM_005271633.3:c.505C>T | XP_005271690.1:p.Leu169Phe | |
| XM_005271636.2:c.571C>T | XP_005271693.1:p.Leu191Phe | |
| XM_005271637.2:c.571C>T | XP_005271694.1:p.Leu191Phe | |
| XM_005271638.2:c.571C>T | XP_005271695.1:p.Leu191Phe | |
| XM_005271639.2:c.571C>T | XP_005271696.1:p.Leu191Phe | |
| XM_011542936.1:c.493C>T | XP_011541238.1:p.Leu165Phe | |
| XM_011542937.1:c.535-742C>T | XP_011541239.1:n.535-742C>T | |
| XM_011542938.1:c.196C>T | XP_011541240.1:p.Leu66Phe | |
| XM_011542939.1:c.160-742C>T | XP_011541241.1:n.160-742C>T | |
| NM_001346252.1:c.571C>T | NP_001333181.1:p.Leu191Phe | |
| NM_001346253.1:c.493C>T | NP_001333182.1:p.Leu165Phe | |
| NM_001346254.1:c.571C>T | NP_001333183.1:p.Leu191Phe | |
| NM_001346255.1:c.562C>T | NP_001333184.1:p.Leu188Phe | |
| NM_001346257.1:c.493C>T | NP_001333186.1:p.Leu165Phe | |
| NM_001346258.1:c.571C>T | NP_001333187.1:p.Leu191Phe | |
| NM_001346259.1:c.493C>T | NP_001333188.1:p.Leu165Phe | |
| NM_001346260.1:c.196C>T | NP_001333189.1:p.Leu66Phe | |
| NM_001346261.1:c.196C>T | NP_001333190.1:p.Leu66Phe | |
| NM_001346262.1:c.196C>T | NP_001333191.1:p.Leu66Phe | |
| NM_001346263.1:c.-217C>T | NP_001333192.1:n.-217C>T | |
| NM_001346264.1:c.-278C>T | NP_001333193.1:n.-278C>T | |
| NM_001346265.1:c.-563C>T | NP_001333194.1:n.-563C>T | |
| NM_001346267.1:c.-278C>T | NP_001333196.1:n.-278C>T | |
| NM_001346268.1:c.-278C>T | NP_001333197.1:n.-278C>T | |
| NM_001346269.1:c.-563C>T | NP_001333198.1:n.-563C>T | |
| NM_001346270.1:c.-563C>T | NP_001333199.1:n.-563C>T | |
| NM_001346271.1:c.-563C>T | NP_001333200.1:n.-563C>T | |
| NM_001346272.1:c.-566C>T | NP_001333201.1:n.-566C>T | |
| NM_001346273.1:c.571C>T | NP_001333202.1:p.Leu191Phe | |
| NM_001301029.2:c.196C>T | NP_001287958.1:p.Leu66Phe | |
| NM_001346252.2:c.571C>T | NP_001333181.1:p.Leu191Phe | |
| NM_001346253.2:c.493C>T | NP_001333182.1:p.Leu165Phe | |
| NM_001346254.2:c.571C>T | NP_001333183.1:p.Leu191Phe | |
| NM_001346255.2:c.562C>T | NP_001333184.1:p.Leu188Phe | |
| NM_001346257.2:c.493C>T | NP_001333186.1:p.Leu165Phe | |
| NM_001346258.2:c.571C>T | NP_001333187.1:p.Leu191Phe | |
| NM_001346259.2:c.493C>T | NP_001333188.1:p.Leu165Phe | |
| NM_001346260.2:c.196C>T | NP_001333189.1:p.Leu66Phe | |
| NM_001346261.2:c.196C>T | NP_001333190.1:p.Leu66Phe | |
| NM_001346262.2:c.196C>T | NP_001333191.1:p.Leu66Phe | |
| NM_001346263.2:c.-217C>T | NP_001333192.1:n.-217C>T | |
| NM_001346264.2:c.-278C>T | NP_001333193.1:n.-278C>T | |
| NM_001346265.2:c.-563C>T | NP_001333194.1:n.-563C>T | |
| NM_001346267.2:c.-278C>T | NP_001333196.1:n.-278C>T | |
| NM_001346268.2:c.-278C>T | NP_001333197.1:n.-278C>T | |
| NM_001346269.2:c.-563C>T | NP_001333198.1:n.-563C>T | |
| NM_001346270.2:c.-563C>T | NP_001333199.1:n.-563C>T | |
| NM_001346271.2:c.-563C>T | NP_001333200.1:n.-563C>T | |
| NM_001346272.2:c.-566C>T | NP_001333201.1:n.-566C>T | |
| NM_001346273.2:c.571C>T | NP_001333202.1:p.Leu191Phe | |
| NM_020886.4:c.571C>T | NP_065937.1:p.Leu191Phe | |
| NM_001346252.3:c.571C>T | NP_001333181.1:p.Leu191Phe | |
| NM_001346252.4:c.571C>T MANE Select | NP_001333181.1:p.Leu191Phe | |
| NM_001400784.1:c.493C>T | NP_001387713.1:p.Leu165Phe | |
| NM_001400785.1:c.571C>T | NP_001387714.1:p.Leu191Phe | |
| NM_001400786.1:c.571C>T | NP_001387715.1:p.Leu191Phe | |
| NM_001400787.1:c.571C>T | NP_001387716.1:p.Leu191Phe | |
| NM_001400788.1:c.457-742C>T | NP_001387717.1:n.457-742C>T | |
| NM_001400789.1:c.493C>T | NP_001387718.1:p.Leu165Phe | |
| NM_001400790.1:c.535-742C>T | NP_001387719.1:n.535-742C>T | |
| NM_001400791.1:c.535-742C>T | NP_001387720.1:n.535-742C>T | |
| NM_001400792.1:c.571C>T | NP_001387721.1:p.Leu191Phe | |
| NM_001400793.1:c.493C>T | NP_001387722.1:p.Leu165Phe | |
| NM_001400794.1:c.493C>T | NP_001387723.1:p.Leu165Phe | |
| NM_001400795.1:c.562C>T | NP_001387724.1:p.Leu188Phe | |
| NM_001400796.1:c.562C>T | NP_001387725.1:p.Leu188Phe | |
| NM_001400797.1:c.562C>T | NP_001387726.1:p.Leu188Phe | |
| NM_001400799.1:c.196C>T | NP_001387728.1:p.Leu66Phe | |
| NM_001400800.1:c.160-742C>T | NP_001387729.1:n.160-742C>T | |
| NM_001400801.1:c.-227-742C>T | NP_001387730.1:n.-227-742C>T | |
| NM_001400802.1:c.-278C>T | NP_001387731.1:n.-278C>T | |
| NM_001400803.1:c.-217C>T | NP_001387732.1:n.-217C>T | |
| NM_001400804.1:c.-217C>T | NP_001387733.1:n.-217C>T | |
| NM_001400805.1:c.-66C>T | NP_001387734.1:n.-66C>T | |
| NM_001400806.1:c.-563C>T | NP_001387735.1:n.-563C>T | |
| NM_001400807.1:c.160-742C>T | NP_001387736.1:n.160-742C>T | |
| NM_001400809.1:c.160-742C>T | NP_001387738.1:n.160-742C>T | |
| NM_001400810.1:c.196C>T | NP_001387739.1:p.Leu66Phe | |
| NM_001400811.1:c.-227-742C>T | NP_001387740.1:n.-227-742C>T | |
| NM_001400812.1:c.-873C>T | NP_001387741.1:n.-873C>T | |
| NM_001400813.1:c.-217C>T | NP_001387742.1:n.-217C>T | |
| NR_174609.1:n.763C>T |