Linked Data
dbSNP Id:
rs3774932
gnomAD v2:
4-103424193-A-G
gnomAD v3:
4-102503036-A-G
gnomAD v4:
4-102503036-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102503036A>G , CM000666.2:g.102503036A>G | GRCh38 |
| NC_000004.11:g.103424193A>G , CM000666.1:g.103424193A>G | GRCh37 |
| NC_000004.10:g.103643223A>G | NCBI36 |
| NG_050628.1:g.6708A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.-54+1248A>G | ENSP00000426147.2:n.-54+1248A>G | |
| ENST00000697793.1:n.178+1248A>G | ||
| ENST00000697794.1:c.-8+1248A>G | ENSP00000513443.1:n.-8+1248A>G | |
| ENST00000697795.1:n.46+1248A>G | ||
| ENST00000697796.1:n.275+864A>G | ||
| ENST00000697797.1:n.196+864A>G | ||
| ENST00000226574.9:c.-8+1248A>G MANE Select | ENSP00000226574.4:n.-8+1248A>G | |
| ENST00000652619.1:c.-54+1248A>G | ENSP00000499031.1:n.-54+1248A>G | |
| ENST00000226574.8:c.-8+1248A>G | ENSP00000226574.4:n.-8+1248A>G | |
| ENST00000394820.8:c.-8+1248A>G | ENSP00000378297.4:n.-8+1248A>G | |
| ENST00000505458.5:c.-8+869A>G | ENSP00000424790.1:n.-8+869A>G | |
| ENST00000507079.5:c.-54+1248A>G | ENSP00000426147.1:n.-54+1248A>G | |
| ENST00000511926.5:c.-54+1248A>G | ENSP00000420904.1:n.-54+1248A>G | |
| NM_001165412.1:c.-8+1248A>G | NP_001158884.1:n.-8+1248A>G | |
| NM_003998.3:c.-8+1248A>G | NP_003989.2:n.-8+1248A>G | |
| XM_011532006.1:c.-54+1248A>G | XP_011530308.1:n.-54+1248A>G | |
| XM_011532007.1:c.-8+869A>G | XP_011530309.1:n.-8+869A>G | |
| NM_001319226.1:c.-8+869A>G | NP_001306155.1:n.-8+869A>G | |
| XM_011532006.2:c.-54+1248A>G | XP_011530308.1:n.-54+1248A>G | |
| XM_024454067.1:c.-54+1248A>G | XP_024309835.1:n.-54+1248A>G | |
| XM_024454069.1:c.-54+1248A>G | XP_024309837.1:n.-54+1248A>G | |
| NM_003998.4:c.-8+1248A>G MANE Select | NP_003989.2:n.-8+1248A>G | |
| NM_001165412.2:c.-8+1248A>G | NP_001158884.1:n.-8+1248A>G | |
| NM_001319226.2:c.-8+869A>G | NP_001306155.1:n.-8+869A>G | |
| NM_001382625.1:c.-78+864A>G | NP_001369554.1:n.-78+864A>G | |
| NM_001382626.1:c.-78+1248A>G | NP_001369555.1:n.-78+1248A>G | |
| NM_001382627.1:c.-78+1248A>G | NP_001369556.1:n.-78+1248A>G | |
| NM_001382628.1:c.-1+1248A>G | NP_001369557.1:n.-1+1248A>G |