HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17023978T>G , CM000663.2:g.17023978T>G | GRCh38 |
NC_000001.10:g.17350473T>G , CM000663.1:g.17350473T>G | GRCh37 |
NC_000001.9:g.17223060T>G | NCBI36 |
NG_012340.1:g.35193A>C , LRG_316:g.35193A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.466A>C | ENSP00000481376.2:p.Met156Leu | |
ENST00000491274.6:c.595A>C | ENSP00000480482.2:p.Met199Leu | |
ENST00000375499.8:c.637A>C MANE Select | ENSP00000364649.3:p.Met213Leu | |
ENST00000375499.7:c.637A>C | ENSP00000364649.3:p.Met213Leu | |
ENST00000485515.5:n.571A>C | ||
ENST00000491274.5:c.595A>C | ENSP00000480482.1:p.Met199Leu | |
NM_003000.2:c.637A>C , LRG_316t1:c.637A>C | NP_002991.2:p.Met213Leu | |
NM_003000.3:c.637A>C MANE Select | NP_002991.2:p.Met213Leu |