HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128248826T>C , CM000669.2:g.128248826T>C | GRCh38 |
NC_000007.13:g.127888879T>C , CM000669.1:g.127888879T>C | GRCh37 |
NC_000007.12:g.127676115T>C | NCBI36 |
NG_007450.1:g.12549T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308868.5:c.-28-3165T>C MANE Select | ENSP00000312652.4:n.-28-3165T>C | |
ENST00000308868.4:c.-28-3165T>C | ENSP00000312652.4:n.-28-3165T>C | |
NM_000230.2:c.-28-3165T>C | NP_000221.1:n.-28-3165T>C | |
XM_005250340.3:c.-28-3165T>C | XP_005250397.1:n.-28-3165T>C | |
XM_005250340.5:c.-28-3165T>C | XP_005250397.1:n.-28-3165T>C | |
NM_000230.3:c.-28-3165T>C MANE Select | NP_000221.1:n.-28-3165T>C |