HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17054017C>T , CM000663.2:g.17054017C>T | GRCh38 |
NC_000001.10:g.17380512C>T , CM000663.1:g.17380512C>T | GRCh37 |
NC_000001.9:g.17253099C>T | NCBI36 |
NG_012340.1:g.5154G>A , LRG_316:g.5154G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375499.8:c.3G>A MANE Select | ENSP00000364649.3:p.Met1Ile | |
ENST00000375499.7:c.3G>A | ENSP00000364649.3:p.Met1Ile | |
ENST00000466613.2:n.15G>A | ||
NM_003000.2:c.3G>A , LRG_316t1:c.3G>A | NP_002991.2:p.Met1Ile | |
NM_003000.3:c.3G>A MANE Select | NP_002991.2:p.Met1Ile |