HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20579671T>C , CM000686.2:g.20579671T>C | GRCh38 |
NC_000024.9:g.22741557T>C , CM000686.1:g.22741557T>C | GRCh37 |
NC_000024.8:g.21150945T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361365.7:c.80T>C MANE Select | ENSP00000354722.2:p.Val27Ala | |
ENST00000361365.6:c.80T>C | ENSP00000354722.2:p.Val27Ala | |
ENST00000382772.3:c.80T>C | ENSP00000372222.3:p.Val27Ala | |
ENST00000465253.1:n.174T>C | ||
NM_001278612.1:c.80T>C | NP_001265541.1:p.Val27Ala | |
NM_004681.3:c.80T>C | NP_004672.2:p.Val27Ala | |
NM_004681.4:c.80T>C MANE Select | NP_004672.2:p.Val27Ala | |
NM_001278612.2:c.80T>C | NP_001265541.1:p.Val27Ala |