HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18393692G>A , CM000670.2:g.18393692G>A | GRCh38 |
NC_000008.10:g.18251202G>A , CM000670.1:g.18251202G>A | GRCh37 |
NC_000008.9:g.18295482G>A | NCBI36 |
NG_012246.1:g.7448G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.-7+2347G>A MANE Select | ENSP00000286479.3:n.-7+2347G>A | |
ENST00000286479.3:c.-7+2347G>A | ENSP00000286479.3:n.-7+2347G>A | |
ENST00000520116.1:c.-58+2347G>A | ENSP00000428416.1:n.-58+2347G>A | |
NM_000015.2:c.-7+2347G>A | NP_000006.2:n.-7+2347G>A | |
XM_011544358.1:c.-7+956G>A | XP_011542660.1:n.-7+956G>A | |
XM_017012938.1:c.-6-6306G>A | XP_016868427.1:n.-6-6306G>A | |
NM_000015.3:c.-7+2347G>A MANE Select | NP_000006.2:n.-7+2347G>A |