Linked Data
dbSNP Id:
rs551256627
ExAC:
19:45412374 C / G
gnomAD v2:
19-45412374-C-G
gnomAD v3:
19-44909117-C-G
gnomAD v4:
19-44909117-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909117C>G , CM000681.2:g.44909117C>G | GRCh38 |
| NC_000019.9:g.45412374C>G , CM000681.1:g.45412374C>G | GRCh37 |
| NC_000019.8:g.50104214C>G | NCBI36 |
| NG_007084.2:g.8336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.821C>G MANE Select | ENSP00000252486.3:p.Ala274Gly | |
| ENST00000252486.8:c.821C>G | ENSP00000252486.3:p.Ala274Gly | |
| NM_000041.3:c.821C>G | NP_000032.1:p.Ala274Gly | |
| NM_001302688.1:c.899C>G | NP_001289617.1:p.Ala300Gly | |
| NM_001302689.1:c.821C>G | NP_001289618.1:p.Ala274Gly | |
| NM_001302690.1:c.821C>G | NP_001289619.1:p.Ala274Gly | |
| NM_001302691.1:c.821C>G | NP_001289620.1:p.Ala274Gly | |
| NM_000041.4:c.821C>G MANE Select | NP_000032.1:p.Ala274Gly | |
| NM_001302688.2:c.899C>G | NP_001289617.1:p.Ala300Gly | |
| NM_001302689.2:c.821C>G | NP_001289618.1:p.Ala274Gly | |
| NM_001302691.2:c.821C>G | NP_001289620.1:p.Ala274Gly | |
| NM_001302690.2:c.821C>G | NP_001289619.1:p.Ala274Gly |