Linked Data
dbSNP Id:
rs2086452
gnomAD v2:
15-100728663-G-A
gnomAD v3:
15-100188458-G-A
gnomAD v4:
15-100188458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100188458G>A , CM000677.2:g.100188458G>A | GRCh38 |
| NC_000015.9:g.100728663G>A , CM000677.1:g.100728663G>A | GRCh37 |
| NC_000015.8:g.98546186G>A | NCBI36 |
| NG_016287.1:g.158521C>T | |
| NG_016287.2:g.158521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1181+10860C>T MANE Select | ENSP00000268070.4:n.1181+10860C>T | |
| ENST00000568565.2:c.1181+10860C>T | ENSP00000456161.2:n.1181+10860C>T | |
| ENST00000268070.8:c.1181+10860C>T | ENSP00000268070.4:n.1181+10860C>T | |
| ENST00000378898.8:n.862+10860C>T | ||
| ENST00000559976.1:n.177+10860C>T | ||
| NM_139057.2:c.1181+10860C>T | NP_620688.2:n.1181+10860C>T | |
| XM_005254872.2:c.1181+10860C>T | XP_005254929.1:n.1181+10860C>T | |
| XM_011521312.1:c.1181+10860C>T | XP_011519614.1:n.1181+10860C>T | |
| NM_139057.3:c.1181+10860C>T | NP_620688.2:n.1181+10860C>T | |
| XM_005254872.3:c.1181+10860C>T | XP_005254929.1:n.1181+10860C>T | |
| XM_011521312.2:c.1181+10860C>T | XP_011519614.1:n.1181+10860C>T | |
| XM_017021973.2:c.1313+10860C>T | XP_016877462.1:n.1313+10860C>T | |
| XM_017021974.1:c.1313+10860C>T | XP_016877463.1:n.1313+10860C>T | |
| XM_017021975.1:c.1313+10860C>T | XP_016877464.1:n.1313+10860C>T | |
| XM_017021976.1:c.584+10860C>T | XP_016877465.1:n.584+10860C>T | |
| XM_017021977.1:c.1313+10860C>T | XP_016877466.1:n.1313+10860C>T | |
| XM_017021978.1:c.215+10860C>T | XP_016877467.1:n.215+10860C>T | |
| XM_017021979.1:c.-7-33138C>T | XP_016877468.1:n.-7-33138C>T | |
| XM_017021981.1:c.1313+10860C>T | XP_016877470.1:n.1313+10860C>T | |
| XM_017021984.1:c.452+10860C>T | XP_016877473.1:n.452+10860C>T | |
| XR_001751118.1:n.2335+10860C>T | ||
| XR_001751119.1:n.2335+10860C>T | ||
| XR_001751120.1:n.2335+10860C>T | ||
| NM_139057.4:c.1181+10860C>T MANE Select | NP_620688.2:n.1181+10860C>T |