HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981636T>C , CM000674.2:g.48981636T>C | GRCh38 |
NC_000012.11:g.49375419T>C , CM000674.1:g.49375419T>C | GRCh37 |
NC_000012.10:g.47661686T>C | NCBI36 |
NG_033141.1:g.8184T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.1109T>C MANE Select | ENSP00000293549.3:p.Leu370Pro | |
ENST00000293549.3:c.1109T>C | ENSP00000293549.3:p.Leu370Pro | |
ENST00000613114.4:c.1076T>C | ENSP00000481240.1:p.Leu359Pro | |
NM_005430.3:c.1109T>C | NP_005421.1:p.Leu370Pro | |
NM_005430.4:c.1109T>C MANE Select | NP_005421.1:p.Leu370Pro |