Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024062C>G , CM000663.2:g.17024062C>G | GRCh38 |
| NC_000001.10:g.17350557C>G , CM000663.1:g.17350557C>G | GRCh37 |
| NC_000001.9:g.17223144C>G | NCBI36 |
| NG_012340.1:g.35109G>C , LRG_316:g.35109G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.382G>C | ENSP00000481376.2:p.Glu128Gln | |
| ENST00000491274.6:c.511G>C | ENSP00000480482.2:p.Glu171Gln | |
| ENST00000375499.8:c.553G>C MANE Select | ENSP00000364649.3:p.Glu185Gln | |
| ENST00000375499.7:c.553G>C | ENSP00000364649.3:p.Glu185Gln | |
| ENST00000485515.5:n.487G>C | ||
| ENST00000491274.5:c.511G>C | ENSP00000480482.1:p.Glu171Gln | |
| NM_003000.2:c.553G>C , LRG_316t1:c.553G>C | NP_002991.2:p.Glu185Gln | |
| NM_003000.3:c.553G>C MANE Select | NP_002991.2:p.Glu185Gln |