Linked Data
dbSNP Id:
rs920879544
gnomAD v2:
22-50663168-C-T
gnomAD v3:
22-50224739-C-T
gnomAD v4:
22-50224739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224739C>T , CM000684.2:g.50224739C>T | GRCh38 |
| NC_000022.10:g.50663168C>T , CM000684.1:g.50663168C>T | GRCh37 |
| NC_000022.9:g.49005295C>T | NCBI36 |
| NG_032160.1:g.25233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.1984-147G>A MANE Select | ENSP00000248846.5:n.1984-147G>A | |
| ENST00000248846.9:c.1984-147G>A | ENSP00000248846.5:n.1984-147G>A | |
| ENST00000439308.6:c.1984-147G>A | ENSP00000397387.2:n.1984-147G>A | |
| ENST00000473946.1:n.293-147G>A | ||
| ENST00000491449.5:n.291-147G>A | ||
| ENST00000498611.5:n.2517-147G>A | ||
| NM_020461.3:c.1984-147G>A | NP_065194.2:n.1984-147G>A | |
| XR_938347.1:n.2549-147G>A | ||
| XR_938348.1:n.2549-147G>A | ||
| XR_001755343.2:n.2553-147G>A | ||
| XR_001755344.2:n.2553-147G>A | ||
| XR_002958720.1:n.2553-147G>A | ||
| XR_938347.2:n.2553-147G>A | ||
| NM_020461.4:c.1984-147G>A MANE Select | NP_065194.3:n.1984-147G>A |