gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669547C>G , CM000682.2:g.3669547C>G | GRCh38 |
| NC_000020.10:g.3650194C>G , CM000682.1:g.3650194C>G | GRCh37 |
| NC_000020.9:g.3598194C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.2331G>C MANE Select | ENSP00000348912.3:p.Leu777= | |
| ENST00000350009.6:c.2253G>C | ENSP00000322550.5:p.Leu751= | |
| ENST00000356518.6:c.2331G>C | ENSP00000348912.2:p.Leu777= | |
| ENST00000379861.8:c.2331G>C | ENSP00000369190.4:p.Leu777= | |
| ENST00000466620.5:n.1892G>C | ||
| ENST00000483362.1:n.1079G>C | ||
| ENST00000617732.1:c.*1018G>C | ENSP00000483343.1:n.*1018G>C | |
| ENST00000619289.4:c.1971G>C | ENSP00000484600.1:p.Leu657= | |
| NM_001282447.1:c.2331G>C | NP_001269376.1:p.Leu777= | |
| NM_025220.3:c.2331G>C | NP_079496.1:p.Leu777= | |
| NM_153202.2:c.2253G>C | NP_694882.1:p.Leu751= | |
| XM_005260843.1:c.2370G>C | XP_005260900.1:p.Leu790= | |
| XM_006723639.1:c.2370G>C | XP_006723702.1:p.Leu790= | |
| XM_006723640.1:c.2361G>C | XP_006723703.1:p.Leu787= | |
| XM_011529366.1:c.2367G>C | XP_011527668.1:p.Leu789= | |
| XM_011529367.1:c.2328G>C | XP_011527669.1:p.Leu776= | |
| XM_011529368.1:c.2292G>C | XP_011527670.1:p.Leu764= | |
| XM_011529373.1:c.1368G>C | XP_011527675.1:p.Leu456= | |
| XR_937151.1:n.2384-177G>C | ||
| XR_937152.1:n.2384-177G>C | ||
| XR_937153.1:n.2355G>C | ||
| XR_937154.1:n.2355G>C | ||
| XR_937155.1:n.2276G>C | ||
| XR_937157.1:n.2278G>C | ||
| NM_001282447.2:c.2331G>C | NP_001269376.1:p.Leu777= | |
| NM_025220.4:c.2331G>C | NP_079496.1:p.Leu777= | |
| NM_153202.3:c.2253G>C | NP_694882.1:p.Leu751= | |
| XM_011529373.2:c.1368G>C | XP_011527675.1:p.Leu456= | |
| XR_001754405.1:n.2442G>C | ||
| XR_002958534.1:n.2551G>C | ||
| NM_001282447.3:c.2331G>C | NP_001269376.1:p.Leu777= | |
| NM_025220.5:c.2331G>C MANE Select | NP_079496.1:p.Leu777= | |
| NM_153202.4:c.2253G>C | NP_694882.1:p.Leu751= |