Linked Data
dbSNP Id:
rs984538607
gnomAD v2:
17-64437938-G-A
gnomAD v3:
17-66441820-G-A
gnomAD v4:
17-66441820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66441820G>A , CM000679.2:g.66441820G>A | GRCh38 |
| NC_000017.10:g.64437938G>A , CM000679.1:g.64437938G>A | GRCh37 |
| NC_000017.9:g.61868400G>A | NCBI36 |
| NG_012206.1:g.144013G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413366.8:c.206-54381G>A MANE Select | ENSP00000408695.3:n.206-54381G>A | |
| ENST00000284384.6:c.198-54381G>A | ||
| ENST00000413366.7:c.206-54381G>A | ENSP00000408695.3:n.206-54381G>A | |
| ENST00000578063.5:c.206-54381G>A | ENSP00000462087.1:n.206-54381G>A | |
| NM_002737.2:c.206-54381G>A | NP_002728.1:n.206-54381G>A | |
| XM_011524990.1:c.206-54381G>A | XP_011523292.1:n.206-54381G>A | |
| XM_011524991.1:c.206-54381G>A | XP_011523293.1:n.206-54381G>A | |
| XM_011524992.1:c.206-54381G>A | XP_011523294.1:n.206-54381G>A | |
| XM_017024836.2:c.206-54381G>A | XP_016880325.1:n.206-54381G>A | |
| XM_017024841.1:c.206-54381G>A | XP_016880330.1:n.206-54381G>A | |
| XR_001752558.1:n.418-54381G>A | ||
| NM_002737.3:c.206-54381G>A MANE Select | NP_002728.2:n.206-54381G>A |