Linked Data
dbSNP Id:
rs11984075
gnomAD v2:
7-37436854-A-G
gnomAD v3:
7-37397251-A-G
gnomAD v4:
7-37397251-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37397251A>G , CM000669.2:g.37397251A>G | GRCh38 |
| NC_000007.13:g.37436854A>G , CM000669.1:g.37436854A>G | GRCh37 |
| NC_000007.12:g.37403379A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310758.9:c.-74+51424T>C MANE Select | ENSP00000312185.4:n.-74+51424T>C | |
| ENST00000310758.8:c.-74+51424T>C | ENSP00000312185.4:n.-74+51424T>C | |
| ENST00000445322.1:c.-169-3334T>C | ENSP00000397857.1:n.-169-3334T>C | |
| ENST00000448602.5:c.-74+51609T>C | ENSP00000394458.1:n.-74+51609T>C | |
| ENST00000453399.5:c.-169-3334T>C | ENSP00000391734.1:n.-169-3334T>C | |
| ENST00000463390.1:n.182+51424T>C | ||
| NM_001206480.2:c.-74+51609T>C | NP_001193409.1:n.-74+51609T>C | |
| NM_014800.10:c.-74+51424T>C | NP_055615.8:n.-74+51424T>C | |
| XM_011515654.1:c.-74+31540T>C | XP_011513956.1:n.-74+31540T>C | |
| XM_011515655.1:c.-74+51424T>C | XP_011513957.1:n.-74+51424T>C | |
| XM_005249919.3:c.-169-3334T>C | XP_005249976.1:n.-169-3334T>C | |
| XM_011515654.2:c.-74+31540T>C | XP_011513956.1:n.-74+31540T>C | |
| XR_001744894.2:n.276+51424T>C | ||
| NM_014800.11:c.-74+51424T>C MANE Select | NP_055615.8:n.-74+51424T>C |