HGVS | Genome Assembly |
---|---|
NC_000006.12:g.112154945C>T , CM000668.2:g.112154945C>T | GRCh38 |
NC_000006.11:g.112476147C>T , CM000668.1:g.112476147C>T | GRCh37 |
NC_000006.10:g.112582840C>T | NCBI36 |
NG_008209.1:g.104682G>A , LRG_433:g.104682G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230538.12:c.1962G>A MANE Select | ENSP00000230538.7:p.Ala654= | |
ENST00000389463.9:c.1941G>A | ENSP00000374114.4:p.Ala647= | |
ENST00000230538.11:c.1962G>A | ENSP00000230538.7:p.Ala654= | |
ENST00000389463.8:c.1941G>A | ENSP00000374114.4:p.Ala647= | |
ENST00000424408.6:c.1941G>A | ENSP00000416470.2:p.Ala647= | |
ENST00000522006.5:c.1941G>A | ENSP00000429488.1:p.Ala647= | |
ENST00000523765.1:c.299G>A | ||
NM_001105206.2:c.1962G>A | NP_001098676.2:p.Ala654= | |
NM_001105207.2:c.1941G>A | NP_001098677.2:p.Ala647= | |
NM_002290.4:c.1941G>A | NP_002281.3:p.Ala647= | |
XM_005266983.3:c.1962G>A | XP_005267040.2:p.Ala654= | |
XM_005266984.3:c.1962G>A | XP_005267041.2:p.Ala654= | |
XM_011535821.1:c.1962G>A | XP_011534123.1:p.Ala654= | |
XM_005266983.4:c.1962G>A | XP_005267040.2:p.Ala654= | |
XM_005266984.4:c.1962G>A | XP_005267041.2:p.Ala654= | |
XM_017010854.2:c.1941G>A | XP_016866343.1:p.Ala647= | |
XR_001743406.2:n.2233G>A | ||
XR_001743407.2:n.2212G>A | ||
XR_001744299.1:n.429-375C>T | ||
NM_001105206.3:c.1962G>A MANE Select | NP_001098676.2:p.Ala654= | |
NM_001105207.3:c.1941G>A | NP_001098677.2:p.Ala647= | |
NM_002290.5:c.1941G>A | NP_002281.3:p.Ala647= |