Linked Data
dbSNP Id:
rs745759372
ExAC:
14:51404552 C / A
gnomAD v2:
14-51404552-C-A
gnomAD v3:
14-50937834-C-A
gnomAD v4:
14-50937834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50937834C>A , CM000676.2:g.50937834C>A | GRCh38 |
| NC_000014.8:g.51404552C>A , CM000676.1:g.51404552C>A | GRCh37 |
| NC_000014.7:g.50474302C>A | NCBI36 |
| NG_012796.1:g.11697G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.247G>T MANE Select | ENSP00000216392.7:p.Val83Leu | |
| ENST00000216392.7:c.247G>T | ENSP00000216392.7:p.Val83Leu | |
| ENST00000530336.2:n.314G>T | ||
| ENST00000532462.5:c.247G>T | ENSP00000431657.1:p.Val83Leu | |
| ENST00000544180.6:c.244-2649G>T | ENSP00000443787.1:n.244-2649G>T | |
| NM_001163940.1:c.244-2649G>T | NP_001157412.1:n.244-2649G>T | |
| NM_002863.4:c.247G>T | NP_002854.3:p.Val83Leu | |
| NM_002863.5:c.247G>T MANE Select | NP_002854.3:p.Val83Leu | |
| NM_001163940.2:c.244-2649G>T | NP_001157412.1:n.244-2649G>T |