Linked Data
dbSNP Id:
rs2487928
gnomAD v2:
10-30323892-G-A
gnomAD v3:
10-30034963-G-A
gnomAD v4:
10-30034963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30034963G>A , CM000672.2:g.30034963G>A | GRCh38 |
| NC_000010.10:g.30323892G>A , CM000672.1:g.30323892G>A | GRCh37 |
| NC_000010.9:g.30363898G>A | NCBI36 |
| NG_053080.1:g.85532C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375377.2:c.282-5097C>T MANE Select | ENSP00000364526.1:n.282-5097C>T | |
| ENST00000375377.1:c.282-5097C>T | ENSP00000364526.1:n.282-5097C>T | |
| NM_020848.2:c.282-5097C>T | NP_065899.1:n.282-5097C>T | |
| XM_011519608.1:c.282-5097C>T | XP_011517910.1:n.282-5097C>T | |
| XM_011519609.1:c.-133-5097C>T | XP_011517911.1:n.-133-5097C>T | |
| XM_011519610.1:c.-133-5097C>T | XP_011517912.1:n.-133-5097C>T | |
| NM_001350001.1:c.-133-5097C>T | NP_001336930.1:n.-133-5097C>T | |
| NM_001350021.1:c.-133-5097C>T | NP_001336950.1:n.-133-5097C>T | |
| NM_001350022.1:c.282-5097C>T | NP_001336951.1:n.282-5097C>T | |
| NM_020848.3:c.282-5097C>T | NP_065899.1:n.282-5097C>T | |
| NM_020848.4:c.282-5097C>T MANE Select | NP_065899.1:n.282-5097C>T | |
| NM_001350001.2:c.-133-5097C>T | NP_001336930.1:n.-133-5097C>T | |
| NM_001350021.2:c.-133-5097C>T | NP_001336950.1:n.-133-5097C>T | |
| NM_001350022.2:c.282-5097C>T | NP_001336951.1:n.282-5097C>T |