Linked Data
dbSNP Id:
rs16960228
gnomAD v2:
17-64788827-G-A
gnomAD v3:
17-66792709-G-A
gnomAD v4:
17-66792709-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66792709G>A , CM000679.2:g.66792709G>A | GRCh38 |
| NC_000017.10:g.64788827G>A , CM000679.1:g.64788827G>A | GRCh37 |
| NC_000017.9:g.62219289G>A | NCBI36 |
| NG_012206.1:g.494902G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413366.8:c.1854+3730G>A MANE Select | ENSP00000408695.3:n.1854+3730G>A | |
| ENST00000413366.7:c.1854+3730G>A | ENSP00000408695.3:n.1854+3730G>A | |
| NM_002737.2:c.1854+3730G>A | NP_002728.1:n.1854+3730G>A | |
| XM_011524989.1:c.1596+3730G>A | XP_011523291.1:n.1596+3730G>A | |
| XM_011524990.1:c.1854+3730G>A | XP_011523292.1:n.1854+3730G>A | |
| XM_017024836.2:c.1854+3730G>A | XP_016880325.1:n.1854+3730G>A | |
| XM_017024837.1:c.1701+3730G>A | XP_016880326.1:n.1701+3730G>A | |
| XM_024450829.1:c.1596+3730G>A | XP_024306597.1:n.1596+3730G>A | |
| XM_024450830.1:c.1596+3730G>A | XP_024306598.1:n.1596+3730G>A | |
| NM_002737.3:c.1854+3730G>A MANE Select | NP_002728.2:n.1854+3730G>A |