Linked Data
dbSNP Id:
rs12150079
gnomAD v2:
17-38025417-G-A
gnomAD v3:
17-39869164-G-A
gnomAD v4:
17-39869164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39869164G>A , CM000679.2:g.39869164G>A | GRCh38 |
| NC_000017.10:g.38025417G>A , CM000679.1:g.38025417G>A | GRCh37 |
| NC_000017.9:g.35278943G>A | NCBI36 |
| NG_029104.2:g.25C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348931.9:c.118+550G>A MANE Select | ENSP00000335384.5:n.118+550G>A | |
| ENST00000348931.8:c.118+550G>A | ENSP00000335384.5:n.118+550G>A | |
| ENST00000377940.3:c.52+758G>A | ENSP00000367174.3:n.52+758G>A | |
| ENST00000583811.5:c.52+758G>A | ENSP00000462463.1:n.52+758G>A | |
| ENST00000584588.5:c.118+550G>A | ENSP00000462067.1:n.118+550G>A | |
| NM_198844.2:c.52+758G>A | NP_942141.2:n.52+758G>A | |
| NM_199321.2:c.118+550G>A | NP_955353.1:n.118+550G>A | |
| XM_011524298.1:c.118+550G>A | XP_011522600.1:n.118+550G>A | |
| XR_002957959.1:n.309+550G>A | ||
| NM_198844.3:c.52+758G>A | NP_942141.2:n.52+758G>A | |
| NM_199321.3:c.118+550G>A MANE Select | NP_955353.1:n.118+550G>A |