HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6224709A>G , CM000668.2:g.6224709A>G | GRCh38 |
NC_000006.11:g.6224942A>G , CM000668.1:g.6224942A>G | GRCh37 |
NC_000006.10:g.6169941A>G | NCBI36 |
NG_008107.1:g.100983T>C , LRG_549:g.100983T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.950T>C MANE Select | ENSP00000264870.3:p.Val317Ala | |
ENST00000264870.7:c.950T>C | ENSP00000264870.3:p.Val317Ala | |
ENST00000445223.1:c.100T>C | ||
NM_000129.3:c.950T>C , LRG_549t1:c.950T>C | NP_000120.2:p.Val317Ala | |
XM_006715010.2:c.950T>C | XP_006715073.1:p.Val317Ala | |
XM_011514342.1:c.1112T>C | XP_011512644.1:p.Val371Ala | |
NM_000129.4:c.950T>C MANE Select | NP_000120.2:p.Val317Ala |