Linked Data
ClinVar Variation Id:
1417685
ClinVar RCV Id:
RCV001938552
dbSNP Id:
rs1370234996
gnomAD v2:
2-97427422-C-G
gnomAD v3:
2-96761685-C-G
gnomAD v4:
2-96761685-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761685C>G , CM000664.2:g.96761685C>G | GRCh38 |
| NC_000002.11:g.97427422C>G , CM000664.1:g.97427422C>G | GRCh37 |
| NC_000002.10:g.96791149C>G | NCBI36 |
| NG_016608.1:g.5784C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.686C>G MANE Select | ENSP00000366275.2:p.Ala229Gly | |
| ENST00000377075.2:c.686C>G | ENSP00000366275.2:p.Ala229Gly | |
| NM_020184.3:c.686C>G | NP_064569.3:p.Ala229Gly | |
| XM_005263914.2:c.686C>G | XP_005263971.1:p.Ala229Gly | |
| XM_005263915.2:c.686C>G | XP_005263972.1:p.Ala229Gly | |
| XM_011510955.1:c.686C>G | XP_011509257.1:p.Ala229Gly | |
| XM_011510956.1:c.686C>G | XP_011509258.1:p.Ala229Gly | |
| XM_005263914.4:c.686C>G | XP_005263971.1:p.Ala229Gly | |
| XM_005263915.4:c.686C>G | XP_005263972.1:p.Ala229Gly | |
| XM_011510955.3:c.686C>G | XP_011509257.1:p.Ala229Gly | |
| XM_011510956.3:c.686C>G | XP_011509258.1:p.Ala229Gly | |
| NM_020184.4:c.686C>G MANE Select | NP_064569.3:p.Ala229Gly |