HGVS | Genome Assembly |
---|---|
NC_000003.12:g.122119472G>C , CM000665.2:g.122119472G>C | GRCh38 |
NC_000003.11:g.121838319G>C , CM000665.1:g.121838319G>C | GRCh37 |
NC_000003.10:g.123321009G>C | NCBI36 |
NG_029928.1:g.69111G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330540.7:c.928G>C MANE Select | ENSP00000332049.2:p.Ala310Pro | |
ENST00000264468.9:c.766G>C | ENSP00000264468.6:p.Ala256Pro | |
ENST00000330540.6:c.928G>C | ENSP00000332049.2:p.Ala310Pro | |
ENST00000393627.6:c.910G>C | ENSP00000377248.2:p.Ala304Pro | |
ENST00000469710.5:c.682G>C | ENSP00000418988.1:p.Ala228Pro | |
ENST00000478741.1:c.770G>C | ||
ENST00000493101.5:c.592G>C | ENSP00000420230.1:p.Ala198Pro | |
NM_001206924.1:c.592G>C | NP_001193853.1:p.Ala198Pro | |
NM_001206925.1:c.682G>C | NP_001193854.1:p.Ala228Pro | |
NM_006889.4:c.910G>C | NP_008820.3:p.Ala304Pro | |
NM_175862.4:c.928G>C | NP_787058.4:p.Ala310Pro | |
NM_176892.1:c.766G>C | NP_795711.1:p.Ala256Pro | |
NM_175862.5:c.928G>C MANE Select | NP_787058.5:p.Ala310Pro | |
NM_001206924.2:c.592G>C | NP_001193853.2:p.Ala198Pro | |
NM_001206925.2:c.682G>C | NP_001193854.2:p.Ala228Pro | |
NM_006889.5:c.910G>C | NP_008820.4:p.Ala304Pro | |
NM_176892.2:c.766G>C | NP_795711.2:p.Ala256Pro |