Linked Data
dbSNP Id:
rs776079129
ExAC:
1:172634899 T / C
gnomAD v2:
1-172634899-T-C
gnomAD v4:
1-172665759-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665759T>C , CM000663.2:g.172665759T>C | GRCh38 |
| NC_000001.10:g.172634899T>C , CM000663.1:g.172634899T>C | GRCh37 |
| NC_000001.9:g.170901522T>C | NCBI36 |
| NG_007269.1:g.11715T>C , LRG_58:g.11715T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.589T>C MANE Select | ENSP00000356694.2:p.Phe197Leu | |
| ENST00000340030.4:c.*159T>C | ENSP00000344739.3:n.*159T>C | |
| ENST00000367721.2:c.589T>C | ENSP00000356694.2:p.Phe197Leu | |
| NM_000639.2:c.589T>C | NP_000630.1:p.Phe197Leu | |
| NM_001302746.1:c.*159T>C | NP_001289675.1:n.*159T>C | |
| NM_000639.3:c.589T>C MANE Select | NP_000630.1:p.Phe197Leu | |
| NM_001302746.2:c.*159T>C | NP_001289675.1:n.*159T>C |