HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135851130G>C , CM000664.2:g.135851130G>C | GRCh38 |
NC_000002.11:g.136608700G>C , CM000664.1:g.136608700G>C | GRCh37 |
NC_000002.10:g.136325170G>C | NCBI36 |
NG_008104.2:g.9040C>G , LRG_338:g.9040C>G | |
NG_008958.1:g.30312C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1917+272C>G MANE Select | ENSP00000264156.2:n.1917+272C>G | |
ENST00000264156.2:c.1917+272C>G | ENSP00000264156.2:n.1917+272C>G | |
ENST00000483902.1:n.544+272C>G | ||
ENST00000492091.1:n.343+272C>G | ||
NM_005915.5:c.1917+272C>G | NP_005906.2:n.1917+272C>G | |
NM_005915.6:c.1917+272C>G MANE Select | NP_005906.2:n.1917+272C>G |