Linked Data
dbSNP Id:
rs13261190
gnomAD v2:
8-42578309-A-G
gnomAD v3:
8-42723166-A-G
gnomAD v4:
8-42723166-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42723166A>G , CM000670.2:g.42723166A>G | GRCh38 |
| NC_000008.10:g.42578309A>G , CM000670.1:g.42578309A>G | GRCh37 |
| NC_000008.9:g.42697466A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289957.3:c.250-7428A>G MANE Select | ENSP00000289957.2:n.250-7428A>G | |
| ENST00000289957.2:c.250-7428A>G | ENSP00000289957.2:n.250-7428A>G | |
| NM_000749.3:c.250-7428A>G | NP_000740.1:n.250-7428A>G | |
| XM_011544390.1:c.-139+5552A>G | XP_011542692.1:n.-139+5552A>G | |
| NM_000749.4:c.250-7428A>G | NP_000740.1:n.250-7428A>G | |
| NM_001347717.1:c.28-7428A>G | NP_001334646.1:n.28-7428A>G | |
| XM_011544390.2:c.-139+5552A>G | XP_011542692.1:n.-139+5552A>G | |
| NM_000749.5:c.250-7428A>G MANE Select | NP_000740.1:n.250-7428A>G | |
| NM_001347717.2:c.28-7428A>G | NP_001334646.1:n.28-7428A>G |