HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240877360T>C , CM000664.2:g.240877360T>C | GRCh38 |
NC_000002.11:g.241816777T>C , CM000664.1:g.241816777T>C | GRCh37 |
NC_000002.10:g.241465450T>C | NCBI36 |
NG_008005.1:g.13616T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.847-177T>C MANE Select | ENSP00000302620.3:n.847-177T>C | |
ENST00000307503.3:c.847-177T>C | ENSP00000302620.3:n.847-177T>C | |
ENST00000470255.1:n.448T>C | ||
NM_000030.2:c.847-177T>C | NP_000021.1:n.847-177T>C | |
NM_000030.3:c.847-177T>C MANE Select | NP_000021.1:n.847-177T>C |