Linked Data
dbSNP Id:
rs13117745
gnomAD v2:
4-103478703-C-T
gnomAD v3:
4-102557546-C-T
gnomAD v4:
4-102557546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102557546C>T , CM000666.2:g.102557546C>T | GRCh38 |
| NC_000004.11:g.103478703C>T , CM000666.1:g.103478703C>T | GRCh37 |
| NC_000004.10:g.103697738C>T | NCBI36 |
| NG_050628.1:g.61218C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.283-9441C>T | ENSP00000426147.2:n.283-9441C>T | |
| ENST00000509165.2:c.259-9441C>T | ENSP00000423877.2:n.259-9441C>T | |
| ENST00000697793.1:n.357-9441C>T | ||
| ENST00000697794.1:c.119-9441C>T | ENSP00000513443.1:n.119-9441C>T | |
| ENST00000697797.1:n.453-9441C>T | ||
| ENST00000226574.9:c.259-9441C>T MANE Select | ENSP00000226574.4:n.259-9441C>T | |
| ENST00000652569.1:c.173-9441C>T | ||
| ENST00000652619.1:c.280-9441C>T | ENSP00000499031.1:n.280-9441C>T | |
| ENST00000226574.8:c.259-9441C>T | ENSP00000226574.4:n.259-9441C>T | |
| ENST00000394820.8:c.256-9441C>T | ENSP00000378297.4:n.256-9441C>T | |
| ENST00000502367.1:n.359-9441C>T | ||
| ENST00000505458.5:c.256-9441C>T | ENSP00000424790.1:n.256-9441C>T | |
| ENST00000507079.5:c.283-9441C>T | ENSP00000426147.1:n.283-9441C>T | |
| ENST00000509165.1:c.259-9441C>T | ENSP00000423877.1:n.259-9441C>T | |
| ENST00000510638.1:n.102+340C>T | ||
| ENST00000513803.5:n.142-9441C>T | ||
| NM_001165412.1:c.256-9441C>T | NP_001158884.1:n.256-9441C>T | |
| NM_003998.3:c.259-9441C>T | NP_003989.2:n.259-9441C>T | |
| XM_011532006.1:c.280-9441C>T | XP_011530308.1:n.280-9441C>T | |
| XM_011532007.1:c.256-9441C>T | XP_011530309.1:n.256-9441C>T | |
| XM_011532008.1:c.259-9441C>T | XP_011530310.1:n.259-9441C>T | |
| XM_011532009.1:c.-138-9441C>T | XP_011530311.1:n.-138-9441C>T | |
| NM_001319226.1:c.256-9441C>T | NP_001306155.1:n.256-9441C>T | |
| XM_011532006.2:c.280-9441C>T | XP_011530308.1:n.280-9441C>T | |
| XM_024454067.1:c.283-9441C>T | XP_024309835.1:n.283-9441C>T | |
| XM_024454068.1:c.259-9441C>T | XP_024309836.1:n.259-9441C>T | |
| XM_024454069.1:c.283-9441C>T | XP_024309837.1:n.283-9441C>T | |
| NM_003998.4:c.259-9441C>T MANE Select | NP_003989.2:n.259-9441C>T | |
| NM_001165412.2:c.256-9441C>T | NP_001158884.1:n.256-9441C>T | |
| NM_001319226.2:c.256-9441C>T | NP_001306155.1:n.256-9441C>T | |
| NM_001382625.1:c.259-9441C>T | NP_001369554.1:n.259-9441C>T | |
| NM_001382626.1:c.259-9441C>T | NP_001369555.1:n.259-9441C>T | |
| NM_001382627.1:c.256-9441C>T | NP_001369556.1:n.256-9441C>T | |
| NM_001382628.1:c.217-9441C>T | NP_001369557.1:n.217-9441C>T |