Linked Data
dbSNP Id:
rs2145442047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192166T>G , CM000681.2:g.15192166T>G | GRCh38 |
| NC_000019.9:g.15302977T>G , CM000681.1:g.15302977T>G | GRCh37 |
| NC_000019.8:g.15163977T>G | NCBI36 |
| NG_009819.1:g.13816A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.473A>C MANE Select | ENSP00000263388.1:p.Asp158Ala | |
| ENST00000263388.6:c.473A>C | ENSP00000263388.1:p.Asp158Ala | |
| ENST00000601011.1:c.470A>C | ENSP00000473138.1:p.Asp157Ala | |
| NM_000435.2:c.473A>C | NP_000426.2:p.Asp158Ala | |
| XM_005259924.3:c.473A>C | XP_005259981.1:p.Asp158Ala | |
| XM_005259924.4:c.473A>C | XP_005259981.1:p.Asp158Ala | |
| NM_000435.3:c.473A>C MANE Select | NP_000426.2:p.Asp158Ala |