HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128247449A>C , CM000669.2:g.128247449A>C | GRCh38 |
NC_000007.13:g.127887502A>C , CM000669.1:g.127887502A>C | GRCh37 |
NC_000007.12:g.127674738A>C | NCBI36 |
NG_007450.1:g.11172A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308868.5:c.-28-4542A>C MANE Select | ENSP00000312652.4:n.-28-4542A>C | |
ENST00000308868.4:c.-28-4542A>C | ENSP00000312652.4:n.-28-4542A>C | |
NM_000230.2:c.-28-4542A>C | NP_000221.1:n.-28-4542A>C | |
XM_005250340.3:c.-28-4542A>C | XP_005250397.1:n.-28-4542A>C | |
XM_005250340.5:c.-28-4542A>C | XP_005250397.1:n.-28-4542A>C | |
NM_000230.3:c.-28-4542A>C MANE Select | NP_000221.1:n.-28-4542A>C |