HGVS | Genome Assembly |
---|---|
NC_000002.12:g.215064027C>T , CM000664.2:g.215064027C>T | GRCh38 |
NC_000002.11:g.215928750C>T , CM000664.1:g.215928750C>T | GRCh37 |
NC_000002.10:g.215636995C>T | NCBI36 |
NG_007074.1:g.79402G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000272895.12:c.317+39G>A MANE Select | ENSP00000272895.7:n.317+39G>A | |
ENST00000272895.11:c.317+39G>A | ENSP00000272895.7:n.317+39G>A | |
NM_173076.2:c.317+39G>A | NP_775099.2:n.317+39G>A | |
NR_103740.1:n.537+39G>A | ||
XM_011510951.1:c.317+39G>A | XP_011509253.1:n.317+39G>A | |
XM_011510952.1:c.317+39G>A | XP_011509254.1:n.317+39G>A | |
XM_011510951.2:c.317+39G>A | XP_011509253.1:n.317+39G>A | |
NM_173076.3:c.317+39G>A MANE Select | NP_775099.2:n.317+39G>A | |
NR_103740.2:n.735+39G>A |