Linked Data
dbSNP Id:
rs1008126
gnomAD v2:
7-103175444-C-T
gnomAD v3:
7-103534997-C-T
gnomAD v4:
7-103534997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103534997C>T , CM000669.2:g.103534997C>T | GRCh38 |
| NC_000007.13:g.103175444C>T , CM000669.1:g.103175444C>T | GRCh37 |
| NC_000007.12:g.102962680C>T | NCBI36 |
| NG_011877.1:g.459520G>A | |
| NG_011877.2:g.459520G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.7349+319G>A | ENSP00000388446.3:n.7349+319G>A | |
| ENST00000428762.6:c.7349+319G>A MANE Select | ENSP00000392423.1:n.7349+319G>A | |
| ENST00000478148.2:n.590+319G>A | ||
| ENST00000679867.1:n.7233+319G>A | ||
| ENST00000679952.1:n.1141+319G>A | ||
| ENST00000681034.1:c.7349+319G>A | ENSP00000506075.1:n.7349+319G>A | |
| ENST00000681315.1:n.1548G>A | ||
| ENST00000681364.1:n.598+319G>A | ||
| ENST00000343529.9:c.7349+319G>A | ENSP00000345694.5:n.7349+319G>A | |
| ENST00000424685.2:c.7349+319G>A | ENSP00000388446.2:n.7349+319G>A | |
| ENST00000428762.5:c.7349+319G>A | ENSP00000392423.1:n.7349+319G>A | |
| ENST00000478148.1:n.580+319G>A | ||
| NM_005045.3:c.7349+319G>A | NP_005036.2:n.7349+319G>A | |
| NM_173054.2:c.7349+319G>A | NP_774959.1:n.7349+319G>A | |
| XR_927832.1:n.41+367C>T | ||
| NM_005045.4:c.7349+319G>A MANE Select | NP_005036.2:n.7349+319G>A | |
| NM_173054.3:c.7349+319G>A | NP_774959.1:n.7349+319G>A |