Linked Data
ClinVar Variation Id:
2853942
ClinVar RCV Id:
RCV003640470
dbSNP Id:
rs757553438
ExAC:
5:127668677 T / C
gnomAD v2:
5-127668677-T-C
gnomAD v3:
5-128332985-T-C
gnomAD v4:
5-128332985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332985T>C , CM000667.2:g.128332985T>C | GRCh38 |
| NC_000005.9:g.127668677T>C , CM000667.1:g.127668677T>C | GRCh37 |
| NC_000005.8:g.127696576T>C | NCBI36 |
| NG_008750.1:g.210059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.933A>G | ||
| ENST00000703785.1:n.1014A>G | ||
| ENST00000262464.9:c.4149A>G MANE Select | ENSP00000262464.4:p.Ser1383= | |
| ENST00000262464.8:c.4149A>G | ENSP00000262464.4:p.Ser1383= | |
| ENST00000507835.5:c.699A>G | ENSP00000426839.1:p.Ser233= | |
| ENST00000508053.5:c.4149A>G | ENSP00000424571.1:p.Ser1383= | |
| ENST00000508989.5:c.4050A>G | ENSP00000425596.1:p.Ser1350= | |
| ENST00000619499.4:c.4146A>G | ENSP00000482132.1:p.Ser1382= | |
| NM_001999.3:c.4149A>G | NP_001990.2:p.Ser1383= | |
| XM_017009228.2:c.3996A>G | XP_016864717.1:p.Ser1332= | |
| NM_001999.4:c.4149A>G MANE Select | NP_001990.2:p.Ser1383= |