Linked Data
dbSNP Id:
rs778965260
ExAC:
19:7998885 C / T
gnomAD v2:
19-7998885-C-T
gnomAD v3:
19-7934000-C-T
gnomAD v4:
19-7934000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934000C>T , CM000681.2:g.7934000C>T | GRCh38 |
| NC_000019.9:g.7998885C>T , CM000681.1:g.7998885C>T | GRCh37 |
| NC_000019.8:g.7904885C>T | NCBI36 |
| NG_051180.1:g.14824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.547G>A MANE Select | ENSP00000270538.2:p.Val183Met | |
| ENST00000270538.7:c.547G>A | ENSP00000270538.2:p.Val183Met | |
| ENST00000595831.5:c.534G>A | ||
| ENST00000595876.5:c.*235G>A | ENSP00000471596.1:n.*235G>A | |
| ENST00000597926.1:c.451G>A | ENSP00000469389.1:p.Val151Met | |
| ENST00000600748.5:n.532G>A | ||
| NM_006351.3:c.547G>A | NP_006342.2:p.Val183Met | |
| NM_006351.4:c.547G>A MANE Select | NP_006342.2:p.Val183Met |