Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273517T>C , CM000679.2:g.58273517T>C | GRCh38 |
| NC_000017.10:g.56350878T>C , CM000679.1:g.56350878T>C | GRCh37 |
| NC_000017.9:g.53705877T>C | NCBI36 |
| NG_009629.1:g.12419A>G , LRG_84:g.12419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.851A>G | ||
| ENST00000699291.1:c.643A>G | ENSP00000514272.1:n.643A>G | |
| ENST00000699292.1:n.558A>G | ||
| ENST00000225275.4:c.1518A>G MANE Select | ENSP00000225275.3:p.Gln506= | |
| ENST00000225275.3:c.1518A>G | ENSP00000225275.3:p.Gln506= | |
| NM_000250.1:c.1518A>G , LRG_84t1:c.1518A>G | NP_000241.1:p.Gln506= | |
| XM_011524821.1:c.1704A>G | XP_011523123.1:p.Gln568= | |
| XM_011524822.1:c.1233A>G | XP_011523124.1:p.Gln411= | |
| XM_011524823.1:c.*67A>G | XP_011523125.1:n.*67A>G | |
| NM_000250.2:c.1518A>G MANE Select | NP_000241.1:p.Gln506= |