Linked Data
ClinVar Variation Id:
806197
ClinVar RCV Id:
RCV000994082
dbSNP Id:
rs772986745
ExAC:
1:119575838 G / A
gnomAD v2:
1-119575838-G-A
gnomAD v4:
1-119033215-G-A
COSMIC:
COSM4740740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033215G>A , CM000663.2:g.119033215G>A | GRCh38 |
| NC_000001.10:g.119575838G>A , CM000663.1:g.119575838G>A | GRCh37 |
| NC_000001.9:g.119377361G>A | NCBI36 |
| NG_050658.1:g.112574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.779C>T MANE Select | ENSP00000235521.4:p.Ser260Leu | |
| ENST00000235521.4:c.779C>T | ENSP00000235521.4:p.Ser260Leu | |
| ENST00000369426.9:c.*145C>T | ENSP00000358434.5:n.*145C>T | |
| NM_015836.3:c.779C>T | NP_056651.1:p.Ser260Leu | |
| NM_201263.2:c.*145C>T | NP_957715.1:n.*145C>T | |
| XM_005270350.2:c.725C>T | XP_005270407.1:p.Ser242Leu | |
| XM_006710283.1:c.497C>T | XP_006710346.1:p.Ser166Leu | |
| XM_011540493.1:c.710C>T | XP_011538795.1:p.Ser237Leu | |
| XM_011540494.1:c.710C>T | XP_011538796.1:p.Ser237Leu | |
| XM_011540495.1:c.521C>T | XP_011538797.1:p.Ser174Leu | |
| XM_005270350.3:c.725C>T | XP_005270407.1:p.Ser242Leu | |
| XM_011540494.2:c.710C>T | XP_011538796.1:p.Ser237Leu | |
| XM_011540495.2:c.521C>T | XP_011538797.1:p.Ser174Leu | |
| XM_017000038.1:c.722C>T | XP_016855527.1:p.Ser241Leu | |
| XM_017000039.1:c.710C>T | XP_016855528.1:p.Ser237Leu | |
| XM_017000040.1:c.608C>T | XP_016855529.1:p.Ser203Leu | |
| XM_017000041.2:c.440C>T | XP_016855530.1:p.Ser147Leu | |
| XM_017000042.1:c.*114C>T | XP_016855531.1:n.*114C>T | |
| XM_024449826.1:c.710C>T | XP_024305594.1:p.Ser237Leu | |
| XM_024449860.1:c.497C>T | XP_024305628.1:p.Ser166Leu | |
| XM_024449871.1:c.497C>T | XP_024305639.1:p.Ser166Leu | |
| NM_001378226.1:c.710C>T | NP_001365155.1:p.Ser237Leu | |
| NM_001378227.1:c.710C>T | NP_001365156.1:p.Ser237Leu | |
| NM_001378228.1:c.608C>T | NP_001365157.1:p.Ser203Leu | |
| NM_001378229.1:c.521C>T | NP_001365158.1:p.Ser174Leu | |
| NM_001378230.1:c.497C>T | NP_001365159.1:p.Ser166Leu | |
| NM_001378231.1:c.*114C>T | NP_001365160.1:n.*114C>T | |
| NM_015836.4:c.779C>T MANE Select | NP_056651.1:p.Ser260Leu |