Linked Data
ClinVar Variation Id:
254145
ClinVar RCV Id:
RCV000240625
dbSNP Id:
rs886037896
gnomAD v2:
2-239237346-T-C
PubMed:
PMID:26487268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238328705T>C , CM000664.2:g.238328705T>C | GRCh38 |
| NC_000002.11:g.239237346T>C , CM000664.1:g.239237346T>C | GRCh37 |
| NC_000002.10:g.238902085T>C | NCBI36 |
| NG_053055.1:g.13217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.374T>C MANE Select | ENSP00000362424.4:p.Val125Ala | |
| ENST00000373327.4:c.374T>C | ENSP00000362424.4:p.Val125Ala | |
| ENST00000391993.7:c.374T>C | ENSP00000375851.3:p.Val125Ala | |
| ENST00000409739.2:c.*243T>C | ENSP00000386648.2:n.*243T>C | |
| NM_001139490.1:c.374T>C | NP_001132962.1:p.Val125Ala | |
| NM_015650.3:c.374T>C | NP_056465.2:p.Val125Ala | |
| XM_006712414.1:c.374T>C | XP_006712477.1:p.Val125Ala | |
| XM_011510944.1:c.374T>C | XP_011509246.1:p.Val125Ala | |
| XM_011510945.1:c.374T>C | XP_011509247.1:p.Val125Ala | |
| XM_011510946.1:c.374T>C | XP_011509248.1:p.Val125Ala | |
| XM_011510947.1:c.242T>C | XP_011509249.1:p.Val81Ala | |
| XM_011510948.1:c.374T>C | XP_011509250.1:p.Val125Ala | |
| XM_011510949.1:c.374T>C | XP_011509251.1:p.Val125Ala | |
| XR_922902.1:n.485T>C | ||
| XM_006712414.2:c.374T>C | XP_006712477.1:p.Val125Ala | |
| XM_011510944.2:c.374T>C | XP_011509246.1:p.Val125Ala | |
| XM_011510945.2:c.374T>C | XP_011509247.1:p.Val125Ala | |
| XM_011510946.2:c.374T>C | XP_011509248.1:p.Val125Ala | |
| XM_011510947.2:c.242T>C | XP_011509249.1:p.Val81Ala | |
| XM_011510948.2:c.374T>C | XP_011509250.1:p.Val125Ala | |
| XM_017003789.1:c.374T>C | XP_016859278.1:p.Val125Ala | |
| XR_001738696.1:n.548T>C | ||
| XR_001738697.1:n.548T>C | ||
| XR_922902.2:n.548T>C | ||
| NM_015650.4:c.374T>C MANE Select | NP_056465.2:p.Val125Ala |