HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44374698A>G , CM000679.2:g.44374698A>G | GRCh38 |
NC_000017.10:g.42452066A>G , CM000679.1:g.42452066A>G | GRCh37 |
NC_000017.9:g.39807592A>G | NCBI36 |
NG_008331.1:g.19808T>C , LRG_479:g.19808T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.2904T>C MANE Select | ENSP00000262407.5:p.Tyr968= | |
ENST00000648408.1:c.2335T>C | ||
ENST00000262407.5:c.2904T>C | ENSP00000262407.5:p.Tyr968= | |
ENST00000587295.5:c.253+1135T>C | ||
ENST00000592462.5:n.2415T>C | ||
NM_000419.3:c.2904T>C , LRG_479t1:c.2904T>C | NP_000410.2:p.Tyr968= | |
XM_011524749.1:c.2842-228T>C | XP_011523051.1:n.2842-228T>C | |
XM_011524750.1:c.2904T>C | XP_011523052.1:p.Tyr968= | |
NM_000419.4:c.2904T>C | NP_000410.2:p.Tyr968= | |
NM_000419.5:c.2904T>C MANE Select | NP_000410.2:p.Tyr968= |