Linked Data
dbSNP Id:
rs763329693
ExAC:
3:15512049 G / T
gnomAD v2:
3-15512049-G-T
gnomAD v4:
3-15470542-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470542G>T , CM000665.2:g.15470542G>T | GRCh38 |
| NC_000003.11:g.15512049G>T , CM000665.1:g.15512049G>T | GRCh37 |
| NC_000003.10:g.15487053G>T | NCBI36 |
| NG_009032.1:g.56210C>A | |
| NG_009032.2:g.56210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.711C>A MANE Select | ENSP00000373298.3:p.Gly237= | |
| ENST00000604401.2:n.707C>A | ||
| ENST00000679838.1:c.*473C>A | ENSP00000505708.1:n.*473C>A | |
| ENST00000680545.1:n.477C>A | ||
| ENST00000681097.1:c.711C>A | ENSP00000505397.1:p.Gly237= | |
| ENST00000383781.8:c.681C>A | ENSP00000373291.3:p.Gly227= | |
| ENST00000383786.9:c.609C>A | ENSP00000373296.3:p.Gly203= | |
| ENST00000383788.9:c.711C>A | ENSP00000373298.3:p.Gly237= | |
| ENST00000603808.5:c.711C>A | ENSP00000474271.1:p.Gly237= | |
| ENST00000605797.1:c.540C>A | ENSP00000474936.1:p.Gly180= | |
| NM_005677.3:c.711C>A | NP_005668.2:p.Gly237= | |
| NM_080538.2:c.681C>A | NP_536799.1:p.Gly227= | |
| NM_080539.3:c.609C>A | NP_536800.2:p.Gly203= | |
| NM_005677.4:c.711C>A MANE Select | NP_005668.2:p.Gly237= | |
| NM_080539.4:c.609C>A | NP_536800.2:p.Gly203= |