Linked Data
dbSNP Id:
rs1328713216
gnomAD v2:
15-43023742-G-A
gnomAD v3:
15-42731544-G-A
gnomAD v4:
15-42731544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731544G>A , CM000677.2:g.42731544G>A | GRCh38 |
| NC_000015.9:g.43023742G>A , CM000677.1:g.43023742G>A | GRCh37 |
| NC_000015.8:g.40811034G>A | NCBI36 |
| NG_012491.1:g.10676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.1739+76C>T MANE Select | ENSP00000348564.3:n.1739+76C>T | |
| ENST00000643434.1:c.*917+76C>T | ENSP00000494699.1:n.*917+76C>T | |
| ENST00000356231.3:c.1739+76C>T | ENSP00000348564.3:n.1739+76C>T | |
| NM_138477.2:c.1739+76C>T | NP_612486.2:n.1739+76C>T | |
| XM_005254176.3:c.1742+76C>T | XP_005254233.1:n.1742+76C>T | |
| XM_011521270.1:c.1766+76C>T | XP_011519572.1:n.1766+76C>T | |
| XM_011521271.1:c.1763+76C>T | XP_011519573.1:n.1763+76C>T | |
| XM_011521272.1:c.1766+76C>T | XP_011519574.1:n.1766+76C>T | |
| XM_011521273.1:c.1766+76C>T | XP_011519575.1:n.1766+76C>T | |
| XM_011521274.1:c.731+76C>T | XP_011519576.1:n.731+76C>T | |
| XM_011521275.1:c.983+76C>T | XP_011519577.1:n.983+76C>T | |
| XR_931757.1:n.1777+76C>T | ||
| NM_138477.4:c.1739+76C>T MANE Select | NP_612486.2:n.1739+76C>T | |
| XM_005254176.5:c.1742+76C>T | XP_005254233.1:n.1742+76C>T | |
| XM_011521270.2:c.1766+76C>T | XP_011519572.1:n.1766+76C>T | |
| XM_011521271.2:c.1763+76C>T | XP_011519573.1:n.1763+76C>T | |
| XM_011521274.2:c.731+76C>T | XP_011519576.1:n.731+76C>T | |
| XR_001751104.1:n.1796+76C>T | ||
| XR_001751105.1:n.1796+76C>T | ||
| XR_931757.2:n.1797+76C>T |