ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000039007 (MANE Select)
0.812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401373G>C , CM000685.2:g.38401373G>C | GRCh38 |
| NC_000023.10:g.38260626G>C , CM000685.1:g.38260626G>C | GRCh37 |
| NC_000023.9:g.38145570G>C | NCBI36 |
| NG_008471.1:g.53891G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.485G>C MANE Select | ENSP00000039007.4:p.Gly162Ala | |
| ENST00000643344.1:c.*235G>C | ENSP00000496606.1:n.*235G>C | |
| ENST00000039007.4:c.485G>C | ENSP00000039007.4:p.Gly162Ala | |
| ENST00000465127.1:c.172-264748G>C | ENSP00000417050.1:n.172-264748G>C | |
| ENST00000488812.1:n.522G>C | ||
| NM_000531.5:c.485G>C | NP_000522.3:p.Gly162Ala | |
| XM_017029556.1:c.485G>C | XP_016885045.1:p.Gly162Ala | |
| NM_000531.6:c.485G>C MANE Select | NP_000522.3:p.Gly162Ala |