gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10162667C>T , CM000681.2:g.10162667C>T | GRCh38 |
| NC_000019.9:g.10273343C>T , CM000681.1:g.10273343C>T | GRCh37 |
| NC_000019.8:g.10134343C>T | NCBI36 |
| NG_028016.3:g.73620G>A , LRG_362:g.73620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1008G>A MANE Select | ENSP00000352516.3:p.Lys336= | |
| ENST00000676604.1:n.620G>A | ||
| ENST00000676610.1:c.960G>A | ENSP00000504236.1:p.Lys320= | |
| ENST00000676820.1:n.1016G>A | ||
| ENST00000676868.1:n.1644G>A | ||
| ENST00000677013.1:c.*650G>A | ENSP00000503135.1:n.*650G>A | |
| ENST00000677250.1:c.*80G>A | ENSP00000502894.1:n.*80G>A | |
| ENST00000677616.1:c.651G>A | ENSP00000503055.1:p.Lys217= | |
| ENST00000677634.1:c.960G>A | ENSP00000504246.1:p.Lys320= | |
| ENST00000677685.1:c.*185G>A | ENSP00000503407.1:n.*185G>A | |
| ENST00000677783.1:n.1430G>A | ||
| ENST00000677946.1:c.960G>A | ENSP00000504202.1:p.Lys320= | |
| ENST00000678024.1:n.1103G>A | ||
| ENST00000678694.1:n.281G>A | ||
| ENST00000678804.1:c.960G>A | ENSP00000503853.1:p.Lys320= | |
| ENST00000679103.1:c.960G>A | ENSP00000503151.1:p.Lys320= | |
| ENST00000679313.1:c.960G>A | ENSP00000504512.1:p.Lys320= | |
| ENST00000340748.8:c.960G>A | ENSP00000345739.3:p.Lys320= | |
| ENST00000359526.8:c.1008G>A | ENSP00000352516.3:p.Lys336= | |
| ENST00000540357.5:c.-49G>A | ENSP00000440457.2:n.-49G>A | |
| ENST00000585920.1:n.317G>A | ||
| ENST00000589349.5:n.191G>A | ||
| ENST00000591764.1:n.186G>A | ||
| ENST00000592705.5:c.*698G>A | ENSP00000466657.1:n.*698G>A | |
| NM_001130823.1:c.1008G>A , LRG_362t1:c.1008G>A | NP_001124295.1:p.Lys336= | |
| NM_001379.2:c.960G>A | NP_001370.1:p.Lys320= | |
| XM_011527772.1:c.1008G>A | XP_011526074.1:p.Lys336= | |
| XM_011527773.1:c.960G>A | XP_011526075.1:p.Lys320= | |
| XM_011527774.1:c.597G>A | XP_011526076.1:p.Lys199= | |
| NM_001130823.2:c.1008G>A | NP_001124295.1:p.Lys336= | |
| NM_001318730.1:c.960G>A | NP_001305659.1:p.Lys320= | |
| NM_001318731.1:c.645G>A | NP_001305660.1:p.Lys215= | |
| NM_001379.3:c.960G>A | NP_001370.1:p.Lys320= | |
| NM_001130823.3:c.1008G>A MANE Select | NP_001124295.1:p.Lys336= | |
| NM_001318730.2:c.960G>A | NP_001305659.1:p.Lys320= | |
| NM_001318731.2:c.645G>A | NP_001305660.1:p.Lys215= | |
| NM_001379.4:c.960G>A | NP_001370.1:p.Lys320= |