HGVS | Genome Assembly |
---|---|
NC_000017.11:g.64496558A>G , CM000679.2:g.64496558A>G | GRCh38 |
NC_000017.10:g.62492676A>G , CM000679.1:g.62492676A>G | GRCh37 |
NC_000017.9:g.59923138A>G | NCBI36 |
NG_013029.1:g.5509T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000539111.7:c.411T>C MANE Select | ENSP00000442563.2:p.Pro137= | |
ENST00000585104.2:n.382T>C | ||
ENST00000671755.1:c.382T>C | ||
ENST00000673460.1:c.382T>C | ||
ENST00000539111.6:c.411T>C | ENSP00000442563.2:p.Pro137= | |
ENST00000578997.1:c.198T>C | ENSP00000464389.1:p.Pro66= | |
ENST00000585141.5:n.462T>C | ||
NM_007215.3:c.411T>C | NP_009146.2:p.Pro137= | |
XM_006721651.2:c.411T>C | XP_006721714.1:p.Pro137= | |
XR_243630.1:n.462T>C | ||
XR_934357.1:n.462T>C | ||
XR_934358.1:n.462T>C | ||
NM_007215.4:c.411T>C MANE Select | NP_009146.2:p.Pro137= |