HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48750841G>C , CM000681.2:g.48750841G>C | GRCh38 |
NC_000019.9:g.49254098G>C , CM000681.1:g.49254098G>C | GRCh37 |
NC_000019.8:g.53945910G>C | NCBI36 |
NG_007510.1:g.9550C>G | |
NG_007510.2:g.9550C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645652.2:c.441C>G MANE Select | ENSP00000494643.1:p.His147Gln | |
ENST00000310160.7:c.441C>G | ENSP00000312021.3:p.His147Gln | |
NM_000148.3:c.441C>G | NP_000139.1:p.His147Gln | |
XM_006723127.1:c.810C>G | XP_006723190.1:p.His270Gln | |
NM_001329877.1:c.441C>G | NP_001316806.1:p.His147Gln | |
NM_000148.4:c.441C>G | NP_000139.1:p.His147Gln | |
NM_001384359.1:c.441C>G MANE Select | NP_001371288.1:p.His147Gln |