Linked Data
ClinVar Variation Id:
732211
ClinVar RCV Id:
RCV000907310
dbSNP Id:
rs17848124
ExAC:
1:31845854 T / C
gnomAD v2:
1-31845854-T-C
gnomAD v3:
1-31373007-T-C
gnomAD v4:
1-31373007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373007T>C , CM000663.2:g.31373007T>C | GRCh38 |
| NC_000001.10:g.31845854T>C , CM000663.1:g.31845854T>C | GRCh37 |
| NC_000001.9:g.31618441T>C | NCBI36 |
| NG_047049.1:g.5277A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373713.7:c.8A>G MANE Select | ENSP00000362817.2:p.Asp3Gly | |
| ENST00000373713.6:c.8A>G | ENSP00000362817.2:p.Asp3Gly | |
| ENST00000482018.1:c.8A>G | ENSP00000473982.1:p.Asp3Gly | |
| ENST00000498148.5:c.8A>G | ENSP00000474078.1:p.Asp3Gly | |
| NM_004102.3:c.8A>G | NP_004093.1:p.Asp3Gly | |
| XM_011541007.1:c.8A>G | XP_011539309.1:p.Asp3Gly | |
| NM_001320996.1:c.8A>G | NP_001307925.1:p.Asp3Gly | |
| NM_004102.4:c.8A>G | NP_004093.1:p.Asp3Gly | |
| XM_011541007.3:c.8A>G | XP_011539309.1:p.Asp3Gly | |
| NM_004102.5:c.8A>G MANE Select | NP_004093.1:p.Asp3Gly | |
| NM_001320996.2:c.8A>G | NP_001307925.1:p.Asp3Gly |