Linked Data
ClinVar Variation Id:
1337755
ClinVar RCV Id:
RCV001822353
dbSNP Id:
rs1759381127
gnomAD v4:
6-24301814-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301814G>C , CM000668.2:g.24301814G>C | GRCh38 |
| NC_000006.11:g.24302042G>C , CM000668.1:g.24302042G>C | GRCh37 |
| NC_000006.10:g.24410021G>C | NCBI36 |
| NG_012829.1:g.61239C>G | |
| NG_012829.2:g.86479C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.458C>G MANE Select | ENSP00000367715.3:p.Ala153Gly | |
| ENST00000378454.7:c.458C>G | ENSP00000367715.3:p.Ala153Gly | |
| NM_001195610.1:c.458C>G | NP_001182539.1:p.Ala153Gly | |
| NM_016356.4:c.458C>G | NP_057440.2:p.Ala153Gly | |
| NM_016356.5:c.458C>G MANE Select | NP_057440.2:p.Ala153Gly | |
| NM_001195610.2:c.458C>G | NP_001182539.1:p.Ala153Gly |