Linked Data
ClinVar Variation Id:
336938
dbSNP Id:
rs142838031
ExAC:
2:71351402 A / C
gnomAD v2:
2-71351402-A-C
gnomAD v3:
2-71124272-A-C
gnomAD v4:
2-71124272-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124272A>C , CM000664.2:g.71124272A>C | GRCh38 |
| NC_000002.11:g.71351402A>C , CM000664.1:g.71351402A>C | GRCh37 |
| NC_000002.10:g.71204910A>C | NCBI36 |
| NG_008977.1:g.10993T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.312T>G MANE Select | ENSP00000244217.5:p.Arg104= | |
| ENST00000244217.5:c.312T>G | ENSP00000244217.5:p.Arg104= | |
| ENST00000413592.5:c.84+96T>G | ENSP00000391140.1:n.84+96T>G | |
| ENST00000486135.1:c.27T>G | ENSP00000441569.1:p.Arg9= | |
| ENST00000494660.6:c.27T>G | ENSP00000437361.1:p.Arg9= | |
| NM_032601.3:c.312T>G | NP_115990.3:p.Arg104= | |
| XM_005264613.2:c.216+96T>G | XP_005264670.1:n.216+96T>G | |
| XR_939729.1:n.381T>G | ||
| XR_939729.2:n.381T>G | ||
| NM_032601.4:c.312T>G MANE Select | NP_115990.3:p.Arg104= |