HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160032912G>A , CM000668.2:g.160032912G>A | GRCh38 |
NC_000006.11:g.160453944G>A , CM000668.1:g.160453944G>A | GRCh37 |
NC_000006.10:g.160373934G>A | NCBI36 |
NG_011785.3:g.68814G>A | |
NG_011785.4:g.68814G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356956.6:c.1046-30G>A MANE Select | ENSP00000349437.1:n.1046-30G>A | |
ENST00000649737.1:n.283-30G>A | ||
ENST00000676781.1:c.1046-30G>A | ENSP00000504419.1:n.1046-30G>A | |
ENST00000677704.1:c.1046-30G>A | ENSP00000503314.1:n.1046-30G>A | |
ENST00000356956.5:c.1046-30G>A | ENSP00000349437.1:n.1046-30G>A | |
NM_000876.2:c.1046-30G>A | NP_000867.2:n.1046-30G>A | |
XR_942419.1:n.1061-30G>A | ||
NM_000876.3:c.1046-30G>A | NP_000867.2:n.1046-30G>A | |
NM_000876.4:c.1046-30G>A MANE Select | NP_000867.3:n.1046-30G>A |