Linked Data
dbSNP Id:
rs12946454
gnomAD v2:
17-43208121-A-T
gnomAD v3:
17-45130754-A-T
gnomAD v4:
17-45130754-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45130754A>T , CM000679.2:g.45130754A>T | GRCh38 |
| NC_000017.10:g.43208121A>T , CM000679.1:g.43208121A>T | GRCh37 |
| NC_000017.9:g.40563647A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619929.5:c.163+1494T>A MANE Select | ENSP00000479636.1:n.163+1494T>A | |
| ENST00000538093.1:c.-30+2324T>A | ENSP00000440378.1:n.-30+2324T>A | |
| ENST00000544446.1:n.272-1468T>A | ||
| ENST00000590644.5:c.94+2497T>A | ENSP00000467800.1:n.94+2497T>A | |
| ENST00000619929.4:c.163+1494T>A | ENSP00000479636.1:n.163+1494T>A | |
| NM_133373.4:c.163+1494T>A | NP_588614.1:n.163+1494T>A | |
| XM_011524253.1:c.163+1494T>A | XP_011522555.1:n.163+1494T>A | |
| XM_011524253.3:c.163+1494T>A | XP_011522555.1:n.163+1494T>A | |
| XM_024450554.1:c.163+1494T>A | XP_024306322.1:n.163+1494T>A | |
| NM_133373.5:c.163+1494T>A MANE Select | NP_588614.1:n.163+1494T>A |