HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818765T>C , CM000671.2:g.129818765T>C | GRCh38 |
NC_000009.11:g.132581044T>C , CM000671.1:g.132581044T>C | GRCh37 |
NC_000009.10:g.131620865T>C | NCBI36 |
NG_008049.1:g.10398A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.600A>G MANE Select | ENSP00000345719.4:p.Lys200= | |
ENST00000651202.1:c.696A>G | ENSP00000498222.1:p.Lys232= | |
ENST00000351698.4:c.600A>G | ENSP00000345719.4:p.Lys200= | |
ENST00000473604.2:n.710A>G | ||
ENST00000474192.1:n.17A>G | ||
NM_000113.2:c.600A>G | NP_000104.1:p.Lys200= | |
XR_929731.1:n.760A>G | ||
XR_929731.3:n.628A>G | ||
NM_000113.3:c.600A>G MANE Select | NP_000104.1:p.Lys200= |