Linked Data
dbSNP Id:
rs773303423
ExAC:
1:230825845 A / C
gnomAD v2:
1-230825845-A-C
gnomAD v4:
1-230690099-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690099A>C , CM000663.2:g.230690099A>C | GRCh38 |
| NC_000001.10:g.230825845A>C , CM000663.1:g.230825845A>C | GRCh37 |
| NC_000001.9:g.228892468A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1880A>C MANE Select | ENSP00000355629.4:p.Lys627Thr | |
| ENST00000366668.7:c.1877A>C | ENSP00000355628.3:p.Lys626Thr | |
| ENST00000366669.8:c.1880A>C | ENSP00000355629.4:p.Lys627Thr | |
| ENST00000468893.6:c.*1738A>C | ENSP00000476305.1:n.*1738A>C | |
| ENST00000478710.1:n.139A>C | ||
| ENST00000490900.1:n.659A>C | ||
| ENST00000534989.1:c.1703A>C | ENSP00000440349.1:p.Lys568Thr | |
| NM_001145036.1:c.1877A>C | NP_001138508.1:p.Lys626Thr | |
| NM_007357.2:c.1880A>C | NP_031383.1:p.Lys627Thr | |
| NM_007357.3:c.1880A>C MANE Select | NP_031383.1:p.Lys627Thr | |
| NM_001145036.2:c.1877A>C | NP_001138508.1:p.Lys626Thr |