Linked Data
ClinVar Variation Id:
316682
dbSNP Id:
rs541046450
gnomAD v2:
15-63334843-G-A
gnomAD v3:
15-63042644-G-A
gnomAD v4:
15-63042644-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63042644G>A , CM000677.2:g.63042644G>A | GRCh38 |
| NC_000015.9:g.63334843G>A , CM000677.1:g.63334843G>A | GRCh37 |
| NC_000015.8:g.61121896G>A | NCBI36 |
| NG_007557.1:g.5006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559831.6:c.-186G>A | ENSP00000452977.2:n.-186G>A | |
| ENST00000288398.10:c.-186G>A | ENSP00000288398.6:n.-186G>A | |
| NM_000366.5:c.-186G>A | NP_000357.3:n.-186G>A | |
| NM_001018004.1:c.-186G>A | NP_001018004.1:n.-186G>A | |
| NM_001018005.1:c.-186G>A | NP_001018005.1:n.-186G>A | |
| NM_001018006.1:c.-186G>A | NP_001018006.1:n.-186G>A | |
| NM_001018007.1:c.-186G>A | NP_001018007.1:n.-186G>A | |
| NM_001018020.1:c.-186G>A | NP_001018020.1:n.-186G>A | |
| NM_001301244.1:c.-186G>A | NP_001288173.1:n.-186G>A | |
| XM_006720667.2:c.-186G>A | XP_006720730.1:n.-186G>A |