Linked Data
dbSNP Id:
rs2054568
ExAC:
15:100589224 G / A
gnomAD v2:
15-100589224-G-A
gnomAD v3:
15-100049019-G-A
gnomAD v4:
15-100049019-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100049019G>A , CM000677.2:g.100049019G>A | GRCh38 |
| NC_000015.9:g.100589224G>A , CM000677.1:g.100589224G>A | GRCh37 |
| NC_000015.8:g.98406747G>A | NCBI36 |
| NG_016287.1:g.297960C>T | |
| NG_016287.2:g.297960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2456-27C>T MANE Select | ENSP00000268070.4:n.2456-27C>T | |
| ENST00000568565.2:c.2537-27C>T | ENSP00000456161.2:n.2537-27C>T | |
| ENST00000268070.8:c.2456-27C>T | ENSP00000268070.4:n.2456-27C>T | |
| NM_139057.2:c.2456-27C>T | NP_620688.2:n.2456-27C>T | |
| XM_005254872.2:c.2537-27C>T | XP_005254929.1:n.2537-27C>T | |
| XM_011521312.1:c.2606-27C>T | XP_011519614.1:n.2606-27C>T | |
| NM_139057.3:c.2456-27C>T | NP_620688.2:n.2456-27C>T | |
| XM_005254872.3:c.2537-27C>T | XP_005254929.1:n.2537-27C>T | |
| XM_011521312.2:c.2606-27C>T | XP_011519614.1:n.2606-27C>T | |
| XM_017021973.2:c.2738-27C>T | XP_016877462.1:n.2738-27C>T | |
| XM_017021974.1:c.2738-27C>T | XP_016877463.1:n.2738-27C>T | |
| XM_017021975.1:c.2669-27C>T | XP_016877464.1:n.2669-27C>T | |
| XM_017021976.1:c.2009-27C>T | XP_016877465.1:n.2009-27C>T | |
| XM_017021978.1:c.1640-27C>T | XP_016877467.1:n.1640-27C>T | |
| XM_017021979.1:c.1418-27C>T | XP_016877468.1:n.1418-27C>T | |
| XM_017021980.1:c.1418-27C>T | XP_016877469.1:n.1418-27C>T | |
| XM_017021982.1:c.1127-27C>T | XP_016877471.1:n.1127-27C>T | |
| XM_017021983.1:c.911-27C>T | XP_016877472.1:n.911-27C>T | |
| NM_139057.4:c.2456-27C>T MANE Select | NP_620688.2:n.2456-27C>T |