ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
ENST00000232461 (MANE Select)
0.776
ENST00000433068
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193139G>A , CM000665.2:g.50193139G>A | GRCh38 |
| NC_000003.11:g.50230572G>A , CM000665.1:g.50230572G>A | GRCh37 |
| NC_000003.10:g.50205576G>A | NCBI36 |
| NG_009831.1:g.6530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.113G>A MANE Select | ENSP00000232461.3:p.Gly38Asp | |
| ENST00000232461.7:c.113G>A | ENSP00000232461.3:p.Gly38Asp | |
| ENST00000433068.5:c.113G>A | ENSP00000387555.1:p.Gly38Asp | |
| ENST00000440836.1:c.-32G>A | ENSP00000403537.1:n.-32G>A | |
| ENST00000467787.1:n.294G>A | ||
| NM_000172.3:c.113G>A | NP_000163.2:p.Gly38Asp | |
| NM_144499.2:c.113G>A | NP_653082.1:p.Gly38Asp | |
| XM_011533595.1:c.-32G>A | XP_011531897.1:n.-32G>A | |
| XM_011533596.1:c.-32G>A | XP_011531898.1:n.-32G>A | |
| XR_940416.1:n.393G>A | ||
| NM_000172.4:c.113G>A | NP_000163.2:p.Gly38Asp | |
| NM_144499.3:c.113G>A MANE Select | NP_653082.1:p.Gly38Asp |