HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199233A>C , CM000671.2:g.137199233A>C | GRCh38 |
NC_000009.11:g.140093685A>C , CM000671.1:g.140093685A>C | GRCh37 |
NC_000009.10:g.139213506A>C | NCBI36 |
NG_027801.1:g.6479T>G | |
NG_027801.2:g.9961T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1479T>G MANE Select | ENSP00000387100.4:p.Leu493= | |
ENST00000333046.8:c.873T>G | ENSP00000327617.4:p.Leu291= | |
ENST00000409012.4:c.1479T>G | ENSP00000387100.4:p.Leu493= | |
ENST00000541945.1:n.90+4871T>G | ||
NM_001128228.2:c.1479T>G | NP_001121700.2:p.Leu493= | |
NM_001128228.3:c.1479T>G MANE Select | NP_001121700.2:p.Leu493= |