Linked Data
ClinVar Variation Id:
1403025
ClinVar RCV Id:
RCV001908834
dbSNP Id:
rs2149015482
gnomAD v4:
1-147908155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908155A>G , CM000663.2:g.147908155A>G | GRCh38 |
| NC_000001.10:g.147380282A>G , CM000663.1:g.147380282A>G | GRCh37 |
| NC_000001.9:g.145846906A>G | NCBI36 |
| NG_016242.1:g.10337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.200A>G MANE Select | ENSP00000358238.1:p.Asp67Gly | |
| ENST00000369235.1:c.200A>G | ENSP00000358238.1:p.Asp67Gly | |
| NM_005267.4:c.200A>G | NP_005258.2:p.Asp67Gly | |
| XM_011509416.1:c.200A>G | XP_011507718.1:p.Asp67Gly | |
| XM_011509417.1:c.200A>G | XP_011507719.1:p.Asp67Gly | |
| XM_011509417.2:c.200A>G | XP_011507719.1:p.Asp67Gly | |
| XR_002956281.1:n.1115A>G | ||
| NM_005267.5:c.200A>G MANE Select | NP_005258.2:p.Asp67Gly |