Linked Data
dbSNP Id:
rs778664761
ExAC:
7:103163807 T / A
gnomAD v2:
7-103163807-T-A
gnomAD v4:
7-103523360-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103523360T>A , CM000669.2:g.103523360T>A | GRCh38 |
| NC_000007.13:g.103163807T>A , CM000669.1:g.103163807T>A | GRCh37 |
| NC_000007.12:g.102951043T>A | NCBI36 |
| NG_011877.1:g.471157A>T | |
| NG_011877.2:g.471157A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.7490+31A>T | ENSP00000388446.3:n.7490+31A>T | |
| ENST00000428762.6:c.7490+31A>T MANE Select | ENSP00000392423.1:n.7490+31A>T | |
| ENST00000478148.2:n.762A>T | ||
| ENST00000679867.1:n.7374+31A>T | ||
| ENST00000679952.1:n.1418+31A>T | ||
| ENST00000681034.1:c.7490+31A>T | ENSP00000506075.1:n.7490+31A>T | |
| ENST00000681364.1:n.739+31A>T | ||
| ENST00000343529.9:c.7490+31A>T | ENSP00000345694.5:n.7490+31A>T | |
| ENST00000424685.2:c.7490+31A>T | ENSP00000388446.2:n.7490+31A>T | |
| ENST00000428762.5:c.7490+31A>T | ENSP00000392423.1:n.7490+31A>T | |
| NM_005045.3:c.7490+31A>T | NP_005036.2:n.7490+31A>T | |
| NM_173054.2:c.7490+31A>T | NP_774959.1:n.7490+31A>T | |
| NM_005045.4:c.7490+31A>T MANE Select | NP_005036.2:n.7490+31A>T | |
| NM_173054.3:c.7490+31A>T | NP_774959.1:n.7490+31A>T |