Linked Data
dbSNP Id:
rs2101008554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033357T>A , CM000663.2:g.115033357T>A | GRCh38 |
| NC_000001.10:g.115575978T>A , CM000663.1:g.115575978T>A | GRCh37 |
| NC_000001.9:g.115377501T>A | NCBI36 |
| NG_015891.1:g.8564T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256592.3:c.-1-5T>A MANE Select | ENSP00000256592.1:n.-1-5T>A | |
| ENST00000256592.2:c.-1-5T>A | ENSP00000256592.1:n.-1-5T>A | |
| NM_000549.4:c.-1-5T>A | NP_000540.2:n.-1-5T>A | |
| XM_011542065.1:c.-6T>A | XP_011540367.1:n.-6T>A | |
| XM_011542065.2:c.-6T>A | XP_011540367.1:n.-6T>A | |
| NM_000549.5:c.-1-5T>A MANE Select | NP_000540.2:n.-1-5T>A |