Linked Data
ClinVar Variation Id:
299306
ClinVar RCV Id:
RCV000400271
dbSNP Id:
rs80156707
gnomAD v3:
10-14908170-T-G
gnomAD v4:
10-14908170-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14908170T>G , CM000672.2:g.14908170T>G | GRCh38 |
| NC_000010.10:g.14950169T>G , CM000672.1:g.14950169T>G | GRCh37 |
| NC_000010.9:g.14990175T>G | NCBI36 |
| NG_007276.1:g.50926A>C , LRG_54:g.50926A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378241.6:c.*2505A>C | ENSP00000367487.3:n.*2505A>C | |
| ENST00000456122.2:c.*1343-8858A>C | ENSP00000413180.3:n.*1343-8858A>C | |
| ENST00000697047.1:c.1782+535A>C | ENSP00000513066.1:n.1782+535A>C | |
| ENST00000697070.1:c.2029+288A>C | ENSP00000513085.1:n.2029+288A>C | |
| ENST00000697071.1:c.*1702+535A>C | ENSP00000513086.1:n.*1702+535A>C | |
| ENST00000697072.1:c.*794+535A>C | ENSP00000513087.1:n.*794+535A>C | |
| ENST00000697073.1:c.*1560+535A>C | ENSP00000513088.2:n.*1560+535A>C | |
| ENST00000697074.1:c.*1807+288A>C | ENSP00000513089.2:n.*1807+288A>C | |
| ENST00000378278.7:c.*238A>C MANE Select | ENSP00000367527.2:n.*238A>C | |
| ENST00000357717.6:c.*238A>C | ENSP00000350349.2:n.*238A>C | |
| ENST00000378246.6:c.*238A>C | ENSP00000367492.2:n.*238A>C | |
| ENST00000378289.8:c.1157-8858A>C | ENSP00000367538.4:n.1157-8858A>C | |
| NM_001033855.2:c.*238A>C | NP_001029027.1:n.*238A>C | |
| NM_001033857.2:c.*238A>C | NP_001029029.1:n.*238A>C | |
| NM_001033858.2:c.*238A>C | NP_001029030.1:n.*238A>C | |
| NM_001289076.1:c.*238A>C | NP_001276005.1:n.*238A>C | |
| NM_001289077.1:c.*238A>C | NP_001276006.1:n.*238A>C | |
| NM_001289078.1:c.*238A>C | NP_001276007.1:n.*238A>C | |
| NM_001289079.1:c.*238A>C | NP_001276008.1:n.*238A>C | |
| NM_022487.3:c.*238A>C | NP_071932.2:n.*238A>C | |
| NR_110297.1:n.3092A>C | ||
| XM_006717491.2:c.*238A>C | XP_006717554.1:n.*238A>C | |
| XM_011519616.1:c.*238A>C | XP_011517918.1:n.*238A>C | |
| XM_011519617.1:c.*238A>C | XP_011517919.1:n.*238A>C | |
| XM_011519618.1:c.*238A>C | XP_011517920.1:n.*238A>C | |
| XM_011519619.1:c.*238A>C | XP_011517921.1:n.*238A>C | |
| NM_001350965.1:c.1782+535A>C | NP_001337894.1:n.1782+535A>C | |
| NM_001350966.1:c.1437+535A>C | NP_001337895.1:n.1437+535A>C | |
| NM_001350967.1:c.1422+535A>C | NP_001337896.1:n.1422+535A>C | |
| NR_146960.1:n.2149+535A>C | ||
| NR_146961.1:n.2833A>C | ||
| NR_146962.1:n.2804A>C | ||
| XM_006717491.4:c.*238A>C | XP_006717554.1:n.*238A>C | |
| XM_017016557.1:c.*238A>C | XP_016872046.1:n.*238A>C | |
| XM_017016558.1:c.*238A>C | XP_016872047.1:n.*238A>C | |
| XM_024448134.1:c.*238A>C | XP_024303902.1:n.*238A>C | |
| XM_024448135.1:c.1437+535A>C | XP_024303903.1:n.1437+535A>C | |
| NM_001033855.3:c.*238A>C MANE Select | NP_001029027.1:n.*238A>C | |
| NM_001033857.3:c.*238A>C | NP_001029029.1:n.*238A>C | |
| NM_001033858.3:c.*238A>C | NP_001029030.1:n.*238A>C | |
| NM_001289076.2:c.*238A>C | NP_001276005.1:n.*238A>C | |
| NM_001289077.2:c.*238A>C | NP_001276006.1:n.*238A>C | |
| NM_001289078.2:c.*238A>C | NP_001276007.1:n.*238A>C | |
| NM_001289079.2:c.*238A>C | NP_001276008.1:n.*238A>C | |
| NM_001350965.2:c.1782+535A>C | NP_001337894.1:n.1782+535A>C | |
| NM_001350966.2:c.1437+535A>C | NP_001337895.1:n.1437+535A>C | |
| NM_001350967.2:c.1422+535A>C | NP_001337896.1:n.1422+535A>C | |
| NM_022487.4:c.*238A>C | NP_071932.2:n.*238A>C | |
| NR_110297.2:n.2756A>C | ||
| NR_146961.2:n.2497A>C |