Linked Data
ClinVar Variation Id:
2194190
ClinVar RCV Id:
RCV002624272
dbSNP Id:
rs774968464
ExAC:
19:12769099 C / G
gnomAD v2:
19-12769099-C-G
gnomAD v3:
19-12658285-C-G
gnomAD v4:
19-12658285-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658285C>G , CM000681.2:g.12658285C>G | GRCh38 |
| NC_000019.9:g.12769099C>G , CM000681.1:g.12769099C>G | GRCh37 |
| NC_000019.8:g.12630099C>G | NCBI36 |
| NG_008318.1:g.13493G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1169G>C MANE Select | ENSP00000395473.2:p.Gly390Ala | |
| ENST00000221363.8:c.1166G>C | ENSP00000221363.4:p.Gly389Ala | |
| ENST00000456935.6:c.1169G>C | ENSP00000395473.2:p.Gly390Ala | |
| ENST00000465830.1:n.333G>C | ||
| ENST00000466794.5:n.1068G>C | ||
| ENST00000495617.1:n.280+446G>C | ||
| NM_000528.3:c.1169G>C | NP_000519.2:p.Gly390Ala | |
| NM_001173498.1:c.1166G>C | NP_001166969.1:p.Gly389Ala | |
| XM_005259913.1:c.1172G>C | XP_005259970.1:p.Gly391Ala | |
| XM_011528017.1:c.68G>C | XP_011526319.1:p.Gly23Ala | |
| XM_005259913.2:c.1172G>C | XP_005259970.1:p.Gly391Ala | |
| XM_024451518.1:c.68G>C | XP_024307286.1:p.Gly23Ala | |
| NM_000528.4:c.1169G>C MANE Select | NP_000519.2:p.Gly390Ala | |
| NM_001173498.2:c.1166G>C | NP_001166969.1:p.Gly389Ala |