Linked Data
dbSNP Id:
rs1050745500
gnomAD v2:
7-135330144-C-A
gnomAD v3:
7-135645396-C-A
gnomAD v4:
7-135645396-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135645396C>A , CM000669.2:g.135645396C>A | GRCh38 |
| NC_000007.13:g.135330144C>A , CM000669.1:g.135330144C>A | GRCh37 |
| NC_000007.12:g.134980684C>A | NCBI36 |
| NG_051184.1:g.92483C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.5684-72C>A MANE Select | ENSP00000285968.6:n.5684-72C>A | |
| ENST00000285968.10:c.5684-72C>A | ENSP00000285968.6:n.5684-72C>A | |
| ENST00000461255.5:n.891-72C>A | ||
| ENST00000477620.5:c.1405+418C>A | ||
| ENST00000490439.1:c.120+378C>A | ||
| ENST00000607647.5:n.3962-72C>A | ||
| NM_015135.2:c.5684-72C>A | NP_055950.1:n.5684-72C>A | |
| XM_005250235.2:c.4610-72C>A | XP_005250292.1:n.4610-72C>A | |
| NM_001329434.1:c.4610-72C>A | NP_001316363.1:n.4610-72C>A | |
| NM_015135.3:c.5684-72C>A MANE Select | NP_055950.2:n.5684-72C>A | |
| NM_001329434.2:c.4610-72C>A | NP_001316363.2:n.4610-72C>A |