HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6318542G>C , CM000668.2:g.6318542G>C | GRCh38 |
NC_000006.11:g.6318775G>C , CM000668.1:g.6318775G>C | GRCh37 |
NC_000006.10:g.6263774G>C | NCBI36 |
NG_008107.1:g.7150C>G , LRG_549:g.7150C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.123C>G MANE Select | ENSP00000264870.3:p.Asn41Lys | |
ENST00000264870.7:c.123C>G | ENSP00000264870.3:p.Asn41Lys | |
ENST00000414279.5:c.123C>G | ENSP00000413334.1:p.Asn41Lys | |
ENST00000431222.6:c.285C>G | ENSP00000416295.2:p.Asn95Lys | |
ENST00000451619.1:c.197C>G | ||
NM_000129.3:c.123C>G , LRG_549t1:c.123C>G | NP_000120.2:p.Asn41Lys | |
XM_006715010.2:c.123C>G | XP_006715073.1:p.Asn41Lys | |
XM_011514342.1:c.285C>G | XP_011512644.1:p.Asn95Lys | |
NM_000129.4:c.123C>G MANE Select | NP_000120.2:p.Asn41Lys |