ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000307503 (MANE Select)
0.750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869252A>G , CM000664.2:g.240869252A>G | GRCh38 |
| NC_000002.11:g.241808669A>G , CM000664.1:g.241808669A>G | GRCh37 |
| NC_000002.10:g.241457342A>G | NCBI36 |
| NG_008005.1:g.5508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.248A>G MANE Select | ENSP00000302620.3:p.His83Arg | |
| ENST00000307503.3:c.248A>G | ENSP00000302620.3:p.His83Arg | |
| ENST00000472436.1:n.268A>G | ||
| NM_000030.2:c.248A>G | NP_000021.1:p.His83Arg | |
| XR_924060.1:n.405+981T>C | ||
| NM_000030.3:c.248A>G MANE Select | NP_000021.1:p.His83Arg |