HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345169T>C , CM000671.2:g.128345169T>C | GRCh38 |
NC_000009.11:g.131107448T>C , CM000671.1:g.131107448T>C | GRCh37 |
NC_000009.10:g.130147269T>C | NCBI36 |
NG_017057.1:g.9610T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.176T>C MANE Select | ENSP00000300456.3:p.Leu59Pro | |
ENST00000300456.4:c.176T>C | ENSP00000300456.3:p.Leu59Pro | |
ENST00000372870.5:c.231+1888T>C | ENSP00000361961.1:n.231+1888T>C | |
NM_005094.3:c.176T>C | NP_005085.2:p.Leu59Pro | |
XM_017014222.1:c.176T>C | XP_016869711.1:p.Leu59Pro | |
XM_024447391.1:c.176T>C | XP_024303159.1:p.Leu59Pro | |
NM_005094.4:c.176T>C MANE Select | NP_005085.2:p.Leu59Pro |