Linked Data
dbSNP Id:
rs4930767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5488215T>A , CM000674.2:g.5488215T>A | GRCh38 |
| NC_000012.11:g.5597381T>A , CM000674.1:g.5597381T>A | GRCh37 |
| NC_000012.10:g.5467642T>A | NCBI36 |
| NG_050629.1:g.61102T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423158.4:c.19-5979T>A MANE Select | ENSP00000397297.2:n.19-5979T>A | |
| ENST00000423158.3:c.19-5979T>A | ENSP00000397297.2:n.19-5979T>A | |
| ENST00000535299.5:n.232-18350T>A | ||
| ENST00000543548.1:n.209-5979T>A | ||
| NM_001102654.1:c.19-5979T>A | NP_001096124.1:n.19-5979T>A | |
| XM_011520963.1:c.-21-5979T>A | XP_011519265.1:n.-21-5979T>A | |
| XM_011520963.2:c.-21-5979T>A | XP_011519265.1:n.-21-5979T>A | |
| NM_001102654.2:c.19-5979T>A MANE Select | NP_001096124.1:n.19-5979T>A |