HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47733465T>C , CM000679.2:g.47733465T>C | GRCh38 |
NC_000017.10:g.45810831T>C , CM000679.1:g.45810831T>C | GRCh37 |
NC_000017.9:g.43165830T>C | NCBI36 |
NG_012166.1:g.5222T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000177694.2:c.11T>C MANE Select | ENSP00000177694.1:p.Val4Ala | |
ENST00000177694.1:c.11T>C | ENSP00000177694.1:p.Val4Ala | |
ENST00000581328.1:n.41T>C | ||
NM_013351.1:c.11T>C | NP_037483.1:p.Val4Ala | |
XM_011524698.1:c.11T>C | XP_011523000.1:p.Val4Ala | |
NM_013351.2:c.11T>C MANE Select | NP_037483.1:p.Val4Ala |