Linked Data
dbSNP Id:
rs745708105
ExAC:
7:103163812 C / A
gnomAD v2:
7-103163812-C-A
gnomAD v3:
7-103523365-C-A
gnomAD v4:
7-103523365-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523365C>A , CM000669.2:g.103523365C>A | GRCh38 |
| NC_000007.13:g.103163812C>A , CM000669.1:g.103163812C>A | GRCh37 |
| NC_000007.12:g.102951048C>A | NCBI36 |
| NG_011877.1:g.471152G>T | |
| NG_011877.2:g.471152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7490+26G>T | ENSP00000388446.3:n.7490+26G>T | |
| ENST00000428762.6:c.7490+26G>T MANE Select | ENSP00000392423.1:n.7490+26G>T | |
| ENST00000478148.2:n.757G>T | ||
| ENST00000679867.1:n.7374+26G>T | ||
| ENST00000679952.1:n.1418+26G>T | ||
| ENST00000681034.1:c.7490+26G>T | ENSP00000506075.1:n.7490+26G>T | |
| ENST00000681364.1:n.739+26G>T | ||
| ENST00000343529.9:c.7490+26G>T | ENSP00000345694.5:n.7490+26G>T | |
| ENST00000424685.2:c.7490+26G>T | ENSP00000388446.2:n.7490+26G>T | |
| ENST00000428762.5:c.7490+26G>T | ENSP00000392423.1:n.7490+26G>T | |
| NM_005045.3:c.7490+26G>T | NP_005036.2:n.7490+26G>T | |
| NM_173054.2:c.7490+26G>T | NP_774959.1:n.7490+26G>T | |
| NM_005045.4:c.7490+26G>T MANE Select | NP_005036.2:n.7490+26G>T | |
| NM_173054.3:c.7490+26G>T | NP_774959.1:n.7490+26G>T |