Linked Data
dbSNP Id:
rs10503019
gnomAD v2:
18-55454377-G-A
gnomAD v3:
18-57787145-G-A
gnomAD v4:
18-57787145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57787145G>A , CM000680.2:g.57787145G>A | GRCh38 |
| NC_000018.9:g.55454377G>A , CM000680.1:g.55454377G>A | GRCh37 |
| NC_000018.8:g.53605375G>A | NCBI36 |
| NG_007148.2:g.20951C>T | |
| NG_007148.3:g.21678C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642462.1:c.-26+14787C>T | ENSP00000494712.1:n.-26+14787C>T | |
| ENST00000648039.1:c.-26+15853C>T | ENSP00000497863.1:n.-26+15853C>T | |
| ENST00000648908.2:c.-26+15853C>T MANE Select | ENSP00000497896.1:n.-26+15853C>T | |
| ENST00000536015.5:c.-23+15853C>T | ENSP00000445359.1:n.-23+15853C>T | |
| ENST00000591728.1:c.-23+15853C>T | ENSP00000467767.1:n.-23+15853C>T | |
| NM_005603.4:c.-23+15853C>T | NP_005594.1:n.-23+15853C>T | |
| XM_006722481.2:c.-26+15853C>T | XP_006722544.1:n.-26+15853C>T | |
| XM_011526022.1:c.-23+14787C>T | XP_011524324.1:n.-23+14787C>T | |
| XM_011526023.1:c.-26+15853C>T | XP_011524325.1:n.-26+15853C>T | |
| XR_935523.1:n.349-5873G>A | ||
| NM_005603.6:c.-23+15853C>T | NP_005594.2:n.-23+15853C>T | |
| XM_006722481.4:c.-26+15853C>T | XP_006722544.1:n.-26+15853C>T | |
| XM_011526023.3:c.-26+15853C>T | XP_011524325.1:n.-26+15853C>T | |
| NM_001374385.1:c.-26+15853C>T MANE Select | NP_001361314.1:n.-26+15853C>T | |
| NM_001374386.1:c.-78+15853C>T | NP_001361315.1:n.-78+15853C>T |