ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000334909
0.923
ENST00000352480 (MANE Select)
0.923
ENST00000372394
0.923
ENST00000372393
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130479716G>C , CM000671.2:g.130479716G>C | GRCh38 |
| NC_000009.11:g.133355103G>C , CM000671.1:g.133355103G>C | GRCh37 |
| NC_000009.10:g.132344924G>C | NCBI36 |
| NG_011542.1:g.40010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.689G>C MANE Select | ENSP00000253004.6:p.Gly230Ala | |
| ENST00000352480.9:c.689G>C | ENSP00000253004.6:p.Gly230Ala | |
| ENST00000372393.7:c.689G>C | ENSP00000361469.2:p.Gly230Ala | |
| ENST00000372394.5:c.689G>C | ENSP00000361471.1:p.Gly230Ala | |
| ENST00000467695.5:n.398G>C | ||
| ENST00000470849.4:n.414G>C | ||
| ENST00000492400.5:n.198G>C | ||
| ENST00000493984.6:n.513-47G>C | ||
| NM_000050.4:c.689G>C | NP_000041.2:p.Gly230Ala | |
| NM_054012.3:c.689G>C | NP_446464.1:p.Gly230Ala | |
| XM_005272200.2:c.689G>C | XP_005272257.1:p.Gly230Ala | |
| XM_011518705.1:c.803G>C | XP_011517007.1:p.Gly268Ala | |
| XM_005272200.3:c.689G>C | XP_005272257.1:p.Gly230Ala | |
| XM_011518705.2:c.803G>C | XP_011517007.1:p.Gly268Ala | |
| XM_017014729.1:c.785G>C | XP_016870218.1:p.Gly262Ala | |
| NM_054012.4:c.689G>C MANE Select | NP_446464.1:p.Gly230Ala |