HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862901C>G , CM000671.2:g.130862901C>G | GRCh38 |
NC_000009.11:g.133738288C>G , CM000671.1:g.133738288C>G | GRCh37 |
NC_000009.10:g.132728109C>G | NCBI36 |
NG_012034.1:g.154021C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.745C>G | ENSP00000361423.2:p.Pro249Ala | |
ENST00000318560.6:c.688C>G MANE Select | ENSP00000323315.5:p.Pro230Ala | |
ENST00000372348.7:c.745C>G | ENSP00000361423.2:p.Pro249Ala | |
ENST00000318560.5:c.688C>G | ENSP00000323315.5:p.Pro230Ala | |
ENST00000372348.6:c.745C>G | ENSP00000361423.2:p.Pro249Ala | |
NM_005157.5:c.688C>G | NP_005148.2:p.Pro230Ala | |
NM_007313.2:c.745C>G | NP_009297.2:p.Pro249Ala | |
NM_005157.6:c.688C>G MANE Select | NP_005148.2:p.Pro230Ala | |
NM_007313.3:c.745C>G | NP_009297.2:p.Pro249Ala |