Linked Data
dbSNP Id:
rs140169554
ExAC:
17:76219731 T / C
gnomAD v2:
17-76219731-T-C
gnomAD v4:
17-78223650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223650T>C , CM000679.2:g.78223650T>C | GRCh38 |
| NC_000017.10:g.76219731T>C , CM000679.1:g.76219731T>C | GRCh37 |
| NC_000017.9:g.73731326T>C | NCBI36 |
| NG_029069.1:g.14455T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*96T>C MANE Select | ENSP00000324180.4:n.*96T>C | |
| ENST00000301633.8:c.*96T>C | ENSP00000301633.3:n.*96T>C | |
| ENST00000350051.7:c.*96T>C | ENSP00000324180.4:n.*96T>C | |
| ENST00000374948.6:c.407T>C | ENSP00000364086.1:p.Met136Thr | |
| ENST00000589892.1:n.541T>C | ||
| NM_001012270.1:c.407T>C | NP_001012270.1:p.Met136Thr | |
| NM_001012271.1:c.*96T>C | NP_001012271.1:n.*96T>C | |
| NM_001168.2:c.*96T>C | NP_001159.2:n.*96T>C | |
| XR_243654.3:n.727T>C | ||
| XR_934452.1:n.796T>C | ||
| XR_243654.5:n.727T>C | ||
| XR_934452.3:n.796T>C | ||
| NM_001168.3:c.*96T>C MANE Select | NP_001159.2:n.*96T>C | |
| NM_001012270.2:c.407T>C | NP_001012270.1:p.Met136Thr | |
| NM_001012271.2:c.*96T>C | NP_001012271.1:n.*96T>C |