Linked Data
ClinVar Variation Id:
391212
ClinVar RCV Id:
RCV000426864
dbSNP Id:
rs777150879
ExAC:
20:30227887 C / T
gnomAD v2:
20-30227887-C-T
gnomAD v3:
20-31640084-C-T
gnomAD v4:
20-31640084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31640084C>T , CM000682.2:g.31640084C>T | GRCh38 |
| NC_000020.10:g.30227887C>T , CM000682.1:g.30227887C>T | GRCh37 |
| NC_000020.9:g.29691548C>T | NCBI36 |
| NG_012180.1:g.7197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376075.4:c.234C>T MANE Select | ENSP00000365243.3:p.Ala78= | |
| ENST00000376075.3:c.234C>T | ENSP00000365243.3:p.Ala78= | |
| ENST00000490030.1:n.264C>T | ||
| NM_032609.2:c.234C>T | NP_115998.2:p.Ala78= | |
| XM_005260579.3:c.249C>T | XP_005260636.1:p.Ala83= | |
| XM_005260580.3:c.249C>T | XP_005260637.1:p.Ala83= | |
| XM_005260581.2:c.234C>T | XP_005260638.1:p.Ala78= | |
| XM_011529086.1:c.135C>T | XP_011527388.1:p.Ala45= | |
| XM_005260579.4:c.249C>T | XP_005260636.1:p.Ala83= | |
| XM_005260580.4:c.249C>T | XP_005260637.1:p.Ala83= | |
| XM_005260581.3:c.234C>T | XP_005260638.1:p.Ala78= | |
| NM_032609.3:c.234C>T MANE Select | NP_115998.2:p.Ala78= |