Linked Data
dbSNP Id:
rs17879372
gnomAD v2:
14-23312719-G-A
gnomAD v3:
14-22843510-G-A
gnomAD v4:
14-22843510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843510G>A , CM000676.2:g.22843510G>A | GRCh38 |
| NC_000014.8:g.23312719G>A , CM000676.1:g.23312719G>A | GRCh37 |
| NC_000014.7:g.22382559G>A | NCBI36 |
| NG_046989.1:g.11978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.850+92G>A MANE Select | ENSP00000308208.6:n.850+92G>A | |
| ENST00000548162.2:c.850+92G>A | ENSP00000506068.1:n.850+92G>A | |
| ENST00000680097.1:c.*165+92G>A | ENSP00000506631.1:n.*165+92G>A | |
| ENST00000680941.1:c.*248+92G>A | ENSP00000506378.1:n.*248+92G>A | |
| ENST00000311852.10:c.850+92G>A | ENSP00000308208.6:n.850+92G>A | |
| ENST00000548162.1:n.1092+92G>A | ||
| NM_004995.3:c.850+92G>A | NP_004986.1:n.850+92G>A | |
| NM_004995.4:c.850+92G>A MANE Select | NP_004986.1:n.850+92G>A |