Linked Data
dbSNP Id:
rs2855192
gnomAD v2:
9-133728051-G-A
gnomAD v3:
9-130852664-G-A
gnomAD v4:
9-130852664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130852664G>A , CM000671.2:g.130852664G>A | GRCh38 |
| NC_000009.11:g.133728051G>A , CM000671.1:g.133728051G>A | GRCh37 |
| NC_000009.10:g.132717872G>A | NCBI36 |
| NG_012034.1:g.143784G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.137-1400G>A | ENSP00000361423.2:n.137-1400G>A | |
| ENST00000318560.6:c.80-1400G>A MANE Select | ENSP00000323315.5:n.80-1400G>A | |
| ENST00000372348.7:c.137-1400G>A | ENSP00000361423.2:n.137-1400G>A | |
| ENST00000318560.5:c.80-1400G>A | ENSP00000323315.5:n.80-1400G>A | |
| ENST00000372348.6:c.137-1400G>A | ENSP00000361423.2:n.137-1400G>A | |
| ENST00000393293.4:c.137-1403G>A | ENSP00000376971.4:n.137-1403G>A | |
| NM_005157.5:c.80-1400G>A | NP_005148.2:n.80-1400G>A | |
| NM_007313.2:c.137-1400G>A | NP_009297.2:n.137-1400G>A | |
| NM_005157.6:c.80-1400G>A MANE Select | NP_005148.2:n.80-1400G>A | |
| NM_007313.3:c.137-1400G>A | NP_009297.2:n.137-1400G>A |