Linked Data
dbSNP Id:
rs4149263
gnomAD v2:
9-107677289-A-G
gnomAD v3:
9-104915008-A-G
gnomAD v4:
9-104915008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104915008A>G , CM000671.2:g.104915008A>G | GRCh38 |
| NC_000009.11:g.107677289A>G , CM000671.1:g.107677289A>G | GRCh37 |
| NC_000009.10:g.106717110A>G | NCBI36 |
| NG_007981.1:g.18148T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374736.8:c.-92-11237T>C MANE Select | ENSP00000363868.3:n.-92-11237T>C | |
| ENST00000678995.1:c.-92-11237T>C | ENSP00000504612.1:n.-92-11237T>C | |
| ENST00000374733.1:c.-115+12927T>C | ENSP00000363865.1:n.-115+12927T>C | |
| ENST00000374736.7:c.-92-11237T>C | ENSP00000363868.3:n.-92-11237T>C | |
| ENST00000423487.6:c.-92-11237T>C | ENSP00000416623.2:n.-92-11237T>C | |
| NM_005502.3:c.-92-11237T>C | NP_005493.2:n.-92-11237T>C | |
| XM_005251773.1:c.-92-11237T>C | XP_005251830.1:n.-92-11237T>C | |
| XM_005251776.1:c.-115+12927T>C | XP_005251833.1:n.-115+12927T>C | |
| XM_011518339.1:c.-92-11237T>C | XP_011516641.1:n.-92-11237T>C | |
| XM_011518341.1:c.-92-11237T>C | XP_011516643.1:n.-92-11237T>C | |
| XM_011518342.1:c.-156+12927T>C | XP_011516644.1:n.-156+12927T>C | |
| XM_011518343.1:c.-92-11237T>C | XP_011516645.1:n.-92-11237T>C | |
| XM_011518344.1:c.-92-11237T>C | XP_011516646.1:n.-92-11237T>C | |
| XR_428585.2:n.999-3654A>G | ||
| XR_428586.2:n.999-3654A>G | ||
| XR_428587.2:n.20+2668A>G | ||
| XM_005251773.3:c.-92-11237T>C | XP_005251830.1:n.-92-11237T>C | |
| XM_005251776.3:c.-115+12927T>C | XP_005251833.1:n.-115+12927T>C | |
| XM_011518339.3:c.-92-11237T>C | XP_011516641.1:n.-92-11237T>C | |
| XM_011518341.3:c.-92-11237T>C | XP_011516643.1:n.-92-11237T>C | |
| XM_011518342.3:c.-156+12927T>C | XP_011516644.1:n.-156+12927T>C | |
| XM_011518344.2:c.-92-11237T>C | XP_011516646.1:n.-92-11237T>C | |
| XR_001746223.1:n.222-11237T>C | ||
| NM_005502.4:c.-92-11237T>C MANE Select | NP_005493.2:n.-92-11237T>C |