Linked Data
dbSNP Id:
rs368662463
ExAC:
19:15302802 G / A
gnomAD v2:
19-15302802-G-A
gnomAD v3:
19-15191991-G-A
gnomAD v4:
19-15191991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191991G>A , CM000681.2:g.15191991G>A | GRCh38 |
| NC_000019.9:g.15302802G>A , CM000681.1:g.15302802G>A | GRCh37 |
| NC_000019.8:g.15163802G>A | NCBI36 |
| NG_009819.1:g.13991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.648C>T MANE Select | ENSP00000263388.1:p.Gly216= | |
| ENST00000263388.6:c.648C>T | ENSP00000263388.1:p.Gly216= | |
| ENST00000601011.1:c.645C>T | ENSP00000473138.1:p.Gly215= | |
| NM_000435.2:c.648C>T | NP_000426.2:p.Gly216= | |
| XM_005259924.3:c.648C>T | XP_005259981.1:p.Gly216= | |
| XM_005259924.4:c.648C>T | XP_005259981.1:p.Gly216= | |
| NM_000435.3:c.648C>T MANE Select | NP_000426.2:p.Gly216= |