Linked Data
dbSNP Id:
rs941297540
gnomAD v2:
1-26865952-C-T
gnomAD v3:
1-26539461-C-T
gnomAD v4:
1-26539461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26539461C>T , CM000663.2:g.26539461C>T | GRCh38 |
| NC_000001.10:g.26865952C>T , CM000663.1:g.26865952C>T | GRCh37 |
| NC_000001.9:g.26738539C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374168.7:c.108+2492C>T MANE Select | ENSP00000363283.2:n.108+2492C>T | |
| ENST00000374166.8:c.108+2492C>T | ENSP00000363281.4:n.108+2492C>T | |
| ENST00000374168.6:c.108+2492C>T | ENSP00000363283.2:n.108+2492C>T | |
| ENST00000524436.5:n.254+2492C>T | ||
| ENST00000525525.5:c.*95+2492C>T | ENSP00000434616.1:n.*95+2492C>T | |
| ENST00000526040.6:c.108+2492C>T | ENSP00000436990.1:n.108+2492C>T | |
| ENST00000526792.5:c.-169+2492C>T | ENSP00000431651.1:n.-169+2492C>T | |
| ENST00000529454.5:c.-52+2492C>T | ENSP00000433039.1:n.-52+2492C>T | |
| NM_002953.3:c.108+2492C>T | NP_002944.2:n.108+2492C>T | |
| XM_005245967.2:c.-169+2492C>T | XP_005246024.1:n.-169+2492C>T | |
| XM_011541898.1:c.-169+2492C>T | XP_011540200.1:n.-169+2492C>T | |
| XM_024448871.1:c.-169+2492C>T | XP_024304639.1:n.-169+2492C>T | |
| NM_002953.4:c.108+2492C>T MANE Select | NP_002944.2:n.108+2492C>T |