Linked Data
dbSNP Id:
rs10483810
gnomAD v2:
14-68992974-G-T
gnomAD v3:
14-68526257-G-T
gnomAD v4:
14-68526257-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68526257G>T , CM000676.2:g.68526257G>T | GRCh38 |
| NC_000014.8:g.68992974G>T , CM000676.1:g.68992974G>T | GRCh37 |
| NC_000014.7:g.68062727G>T | NCBI36 |
| NG_023267.1:g.711466G>T | |
| NG_023267.2:g.711479G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478014.5:n.383+58007G>T | ||
| ENST00000487270.5:c.1036+58007G>T | ENSP00000419471.1:n.1036+58007G>T | |
| ENST00000487861.5:c.1036+58007G>T | ENSP00000419881.1:n.1036+58007G>T | |
| ENST00000488612.5:c.1036+58007G>T | ENSP00000420061.1:n.1036+58007G>T | |
| ENST00000497460.5:n.497-13943G>T | ||
| ENST00000553595.5:n.613+114730G>T | ||
| ENST00000554244.5:n.419-37293G>T | ||
| NM_133509.3:c.1036+58007G>T | NP_598193.2:n.1036+58007G>T | |
| XM_005267963.2:c.1036+58007G>T | XP_005268020.1:n.1036+58007G>T | |
| XM_011537047.1:c.1036+58007G>T | XP_011535349.1:n.1036+58007G>T | |
| XM_011537048.1:c.1036+58007G>T | XP_011535350.1:n.1036+58007G>T | |
| XM_011537049.1:c.1037-37293G>T | XP_011535351.1:n.1037-37293G>T | |
| XR_943503.1:n.1407+58007G>T | ||
| NM_001321809.1:c.1036+58007G>T | NP_001308738.1:n.1036+58007G>T | |
| NM_001321810.1:c.1036+58007G>T | NP_001308739.1:n.1036+58007G>T | |
| NM_001321812.1:c.1037-13943G>T | NP_001308741.1:n.1037-13943G>T | |
| NM_001321814.1:c.1037-13943G>T | NP_001308743.1:n.1037-13943G>T | |
| NM_001321815.1:c.922+58007G>T | NP_001308744.1:n.922+58007G>T | |
| NM_001321818.1:c.1036+58007G>T | NP_001308747.1:n.1036+58007G>T | |
| NM_001321821.1:c.1036+58007G>T | NP_001308750.1:n.1036+58007G>T | |
| XM_017021546.1:c.733+58007G>T | XP_016877035.1:n.733+58007G>T | |
| XM_017021547.1:c.679+58007G>T | XP_016877036.1:n.679+58007G>T | |
| XM_017021548.1:c.304+58007G>T | XP_016877037.1:n.304+58007G>T | |
| NM_133509.4:c.1036+58007G>T | NP_598193.2:n.1036+58007G>T | |
| NM_001321809.2:c.1036+58007G>T | NP_001308738.1:n.1036+58007G>T | |
| NM_001321810.2:c.1036+58007G>T | NP_001308739.1:n.1036+58007G>T | |
| NM_001321814.2:c.1037-13943G>T | NP_001308743.1:n.1037-13943G>T | |
| NM_001321818.2:c.1036+58007G>T | NP_001308747.1:n.1036+58007G>T | |
| NM_001321821.2:c.1036+58007G>T | NP_001308750.1:n.1036+58007G>T | |
| NM_133509.5:c.1036+58007G>T | NP_598193.2:n.1036+58007G>T |