HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37803891T>G , CM000685.2:g.37803891T>G | GRCh38 |
NC_000023.10:g.37663144T>G , CM000685.1:g.37663144T>G | GRCh37 |
NC_000023.9:g.37548088T>G | NCBI36 |
NG_009065.1:g.28875T>G , LRG_53:g.28875T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*421T>G | ENSP00000512461.1:n.*421T>G | |
ENST00000696171.1:c.816T>G | ENSP00000512462.1:p.Pro272= | |
ENST00000378588.5:c.912T>G MANE Select | ENSP00000367851.4:p.Pro304= | |
ENST00000378588.4:c.912T>G | ENSP00000367851.4:p.Pro304= | |
ENST00000465127.1:c.171+377891T>G | ENSP00000417050.1:n.171+377891T>G | |
ENST00000492288.1:n.337T>G | ||
NM_000397.3:c.912T>G , LRG_53t1:c.912T>G | NP_000388.2:p.Pro304= | |
XM_011543890.1:c.606T>G | XP_011542192.1:p.Pro202= | |
NM_000397.4:c.912T>G MANE Select | NP_000388.2:p.Pro304= |