Linked Data
ClinVar Variation Id:
2800822
ClinVar RCV Id:
RCV003673741
dbSNP Id:
rs775138248
gnomAD v2:
2-20205675-G-C
gnomAD v4:
2-20005914-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005914G>C , CM000664.2:g.20005914G>C | GRCh38 |
| NC_000002.11:g.20205675G>C , CM000664.1:g.20205675G>C | GRCh37 |
| NC_000002.10:g.20069156G>C | NCBI36 |
| NG_008087.1:g.11781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.620C>G MANE Select | ENSP00000383894.3:p.Ala207Gly | |
| ENST00000407540.7:c.620C>G | ENSP00000383894.3:p.Ala207Gly | |
| ENST00000421259.2:c.620C>G | ENSP00000398753.2:p.Ala207Gly | |
| NM_002381.4:c.620C>G | NP_002372.1:p.Ala207Gly | |
| NM_002381.5:c.620C>G MANE Select | NP_002372.1:p.Ala207Gly |