Linked Data
dbSNP Id:
rs17152408
gnomAD v2:
10-126649007-G-A
gnomAD v3:
10-124960438-G-A
gnomAD v4:
10-124960438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124960438G>A , CM000672.2:g.124960438G>A | GRCh38 |
| NC_000010.10:g.126649007G>A , CM000672.1:g.126649007G>A | GRCh37 |
| NC_000010.9:g.126638997G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359653.4:c.815-6156G>A MANE Select | ENSP00000352676.4:n.815-6156G>A | |
| NM_017580.2:c.815-6156G>A | NP_060050.2:n.815-6156G>A | |
| XM_005269925.3:c.893-6156G>A | XP_005269982.1:n.893-6156G>A | |
| XM_005269926.3:c.815-6156G>A | XP_005269983.1:n.815-6156G>A | |
| XM_006717907.1:c.893-6156G>A | XP_006717970.1:n.893-6156G>A | |
| XM_006717907.2:c.893-6156G>A | XP_006717970.1:n.893-6156G>A | |
| XM_017016358.2:c.-286-1849G>A | XP_016871847.1:n.-286-1849G>A | |
| NM_017580.3:c.815-6156G>A MANE Select | NP_060050.2:n.815-6156G>A |