HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541930C>A , CM000671.2:g.98541930C>A | GRCh38 |
NC_000009.11:g.101304212C>A , CM000671.1:g.101304212C>A | GRCh37 |
NC_000009.10:g.100344033C>A | NCBI36 |
NG_016426.1:g.172268G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.573G>T MANE Select | ENSP00000259455.2:p.Lys191Asn | |
ENST00000637410.1:n.351G>T | ||
ENST00000637717.1:c.189G>T | ENSP00000490789.1:p.Lys63Asn | |
ENST00000259455.3:c.573G>T | ENSP00000259455.2:p.Lys191Asn | |
ENST00000477471.1:n.360G>T | ||
ENST00000634227.1:n.347G>T | ||
NM_005458.7:c.573G>T | NP_005449.5:p.Lys191Asn | |
XM_017015331.2:c.279G>T | XP_016870820.1:p.Lys93Asn | |
NM_005458.8:c.573G>T MANE Select | NP_005449.5:p.Lys191Asn |