Linked Data
dbSNP Id:
rs11247915
gnomAD v2:
1-26650550-C-A
gnomAD v3:
1-26324059-C-A
gnomAD v4:
1-26324059-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26324059C>A , CM000663.2:g.26324059C>A | GRCh38 |
| NC_000001.10:g.26650550C>A , CM000663.1:g.26650550C>A | GRCh37 |
| NC_000001.9:g.26523137C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308182.10:c.4737+93G>T MANE Select | ENSP00000310435.6:n.4737+93G>T | |
| ENST00000475866.3:c.5709+93G>T | ENSP00000428746.2:n.5709+93G>T | |
| ENST00000308182.9:c.4737+93G>T | ENSP00000310435.6:n.4737+93G>T | |
| ENST00000374208.1:n.215+93G>T | ||
| ENST00000374211.5:n.351+93G>T | ||
| ENST00000527815.5:c.2115+93G>T | ENSP00000433931.1:n.2115+93G>T | |
| NM_001039775.3:c.4737+93G>T | NP_001034864.2:n.4737+93G>T | |
| XM_005245918.2:c.4737+93G>T | XP_005245975.1:n.4737+93G>T | |
| XM_011541672.1:c.4701+93G>T | XP_011539974.1:n.4701+93G>T | |
| XM_011541673.1:c.4908+93G>T | XP_011539975.1:n.4908+93G>T | |
| XR_946681.1:n.5201+93G>T | ||
| XM_011541673.2:c.4908+93G>T | XP_011539975.1:n.4908+93G>T | |
| XR_001737260.1:n.4760+93G>T | ||
| NM_001039775.4:c.4737+93G>T MANE Select | NP_001034864.2:n.4737+93G>T |