Linked Data
ClinVar Variation Id:
751390
ClinVar RCV Id:
RCV001470237
dbSNP Id:
rs761436257
ExAC:
1:1956411 C / T
gnomAD v2:
1-1956411-C-T
gnomAD v4:
1-2024972-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024972C>T , CM000663.2:g.2024972C>T | GRCh38 |
| NC_000001.10:g.1956411C>T , CM000663.1:g.1956411C>T | GRCh37 |
| NC_000001.9:g.1946271C>T | NCBI36 |
| NG_008168.1:g.10644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.99C>T MANE Select | ENSP00000367848.4:p.Gly33= | |
| ENST00000638411.1:c.99C>T | ENSP00000491632.1:p.Gly33= | |
| ENST00000638604.1:n.163C>T | ||
| ENST00000638771.1:c.99C>T | ENSP00000492435.1:p.Gly33= | |
| ENST00000639045.1:c.*85C>T | ENSP00000491997.1:n.*85C>T | |
| ENST00000639777.1:n.703C>T | ||
| ENST00000639935.1:n.136C>T | ||
| ENST00000640030.1:c.39C>T | ENSP00000491411.1:p.Gly13= | |
| ENST00000640067.1:c.99C>T | ENSP00000491844.1:p.Gly33= | |
| ENST00000640423.1:n.108C>T | ||
| ENST00000640949.1:c.99C>T | ENSP00000492500.1:p.Gly33= | |
| ENST00000378585.5:c.99C>T | ENSP00000367848.4:p.Gly33= | |
| NM_000815.4:c.99C>T | NP_000806.2:p.Gly33= | |
| XM_011541194.1:c.138C>T | XP_011539496.1:p.Gly46= | |
| XM_011541194.3:c.138C>T | XP_011539496.1:p.Gly46= | |
| XM_017000936.1:c.804C>T | XP_016856425.1:p.Gly268= | |
| NM_000815.5:c.99C>T MANE Select | NP_000806.2:p.Gly33= |