Linked Data
dbSNP Id:
rs1800629245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18393558T>A , CM000670.2:g.18393558T>A | GRCh38 |
| NC_000008.10:g.18251068T>A , CM000670.1:g.18251068T>A | GRCh37 |
| NC_000008.9:g.18295348T>A | NCBI36 |
| NG_012246.1:g.7314T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.-7+2213T>A MANE Select | ENSP00000286479.3:n.-7+2213T>A | |
| ENST00000286479.3:c.-7+2213T>A | ENSP00000286479.3:n.-7+2213T>A | |
| ENST00000520116.1:c.-58+2213T>A | ENSP00000428416.1:n.-58+2213T>A | |
| NM_000015.2:c.-7+2213T>A | NP_000006.2:n.-7+2213T>A | |
| XM_011544358.1:c.-7+822T>A | XP_011542660.1:n.-7+822T>A | |
| XM_017012938.1:c.-6-6440T>A | XP_016868427.1:n.-6-6440T>A | |
| NM_000015.3:c.-7+2213T>A MANE Select | NP_000006.2:n.-7+2213T>A |