Linked Data
dbSNP Id:
rs10483813
gnomAD v2:
14-69031284-T-A
gnomAD v3:
14-68564567-T-A
gnomAD v4:
14-68564567-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68564567T>A , CM000676.2:g.68564567T>A | GRCh38 |
| NC_000014.8:g.69031284T>A , CM000676.1:g.69031284T>A | GRCh37 |
| NC_000014.7:g.68101037T>A | NCBI36 |
| NG_023267.1:g.749776T>A | |
| NG_023267.2:g.749789T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478014.5:n.383+96317T>A | ||
| ENST00000487270.5:c.1037-29918T>A | ENSP00000419471.1:n.1037-29918T>A | |
| ENST00000487861.5:c.1037-46439T>A | ENSP00000419881.1:n.1037-46439T>A | |
| ENST00000488612.5:c.1037-86214T>A | ENSP00000420061.1:n.1037-86214T>A | |
| ENST00000553595.5:n.614-118370T>A | ||
| ENST00000554244.5:n.487+949T>A | ||
| ENST00000556251.1:n.63+18943T>A | ||
| NM_133509.3:c.1037-29918T>A | NP_598193.2:n.1037-29918T>A | |
| XM_005267963.2:c.1036+96317T>A | XP_005268020.1:n.1036+96317T>A | |
| XM_011537047.1:c.1037-43329T>A | XP_011535349.1:n.1037-43329T>A | |
| XM_011537048.1:c.1037-46439T>A | XP_011535350.1:n.1037-46439T>A | |
| XM_011537049.1:c.*1013T>A | XP_011535351.1:n.*1013T>A | |
| XR_943503.1:n.1407+96317T>A | ||
| XR_943975.1:n.87+582A>T | ||
| NM_001321809.1:c.1037-38096T>A | NP_001308738.1:n.1037-38096T>A | |
| NM_001321810.1:c.1037-38096T>A | NP_001308739.1:n.1037-38096T>A | |
| NM_001321815.1:c.923-46591T>A | NP_001308744.1:n.923-46591T>A | |
| NM_001321818.1:c.1036+96317T>A | NP_001308747.1:n.1036+96317T>A | |
| NM_001321821.1:c.1037-46439T>A | NP_001308750.1:n.1037-46439T>A | |
| XM_017021546.1:c.734-46439T>A | XP_016877035.1:n.734-46439T>A | |
| XM_017021547.1:c.680-46439T>A | XP_016877036.1:n.680-46439T>A | |
| XM_017021548.1:c.305-46439T>A | XP_016877037.1:n.305-46439T>A | |
| NM_133509.4:c.1037-29918T>A | NP_598193.2:n.1037-29918T>A | |
| NM_001321809.2:c.1037-38096T>A | NP_001308738.1:n.1037-38096T>A | |
| NM_001321810.2:c.1037-38096T>A | NP_001308739.1:n.1037-38096T>A | |
| NM_001321818.2:c.1036+96317T>A | NP_001308747.1:n.1036+96317T>A | |
| NM_001321821.2:c.1037-46439T>A | NP_001308750.1:n.1037-46439T>A | |
| NM_133509.5:c.1037-29918T>A | NP_598193.2:n.1037-29918T>A |