HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135851089A>G , CM000664.2:g.135851089A>G | GRCh38 |
NC_000002.11:g.136608659A>G , CM000664.1:g.136608659A>G | GRCh37 |
NC_000002.10:g.136325129A>G | NCBI36 |
NG_008104.2:g.9081T>C , LRG_338:g.9081T>C | |
NG_008958.1:g.30353T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1917+313T>C MANE Select | ENSP00000264156.2:n.1917+313T>C | |
ENST00000264156.2:c.1917+313T>C | ENSP00000264156.2:n.1917+313T>C | |
ENST00000483902.1:n.544+313T>C | ||
ENST00000492091.1:n.343+313T>C | ||
NM_005915.5:c.1917+313T>C | NP_005906.2:n.1917+313T>C | |
NM_005915.6:c.1917+313T>C MANE Select | NP_005906.2:n.1917+313T>C |