Linked Data
ClinVar Variation Id:
2088594
ClinVar RCV Id:
RCV003018139
dbSNP Id:
rs373998449
ExAC:
2:61144130 C / T
gnomAD v2:
2-61144130-C-T
gnomAD v3:
2-60916995-C-T
gnomAD v4:
2-60916995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60916995C>T , CM000664.2:g.60916995C>T | GRCh38 |
| NC_000002.11:g.61144130C>T , CM000664.1:g.61144130C>T | GRCh37 |
| NC_000002.10:g.60997634C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.513C>T | ENSP00000514191.1:p.Val171= | |
| ENST00000699192.1:c.513C>T | ENSP00000514192.1:p.Val171= | |
| ENST00000699193.1:c.*112C>T | ENSP00000514193.1:n.*112C>T | |
| ENST00000699194.1:n.464C>T | ||
| ENST00000394479.4:c.513C>T MANE Select | ENSP00000377989.4:p.Val171= | |
| ENST00000295025.12:c.513C>T | ENSP00000295025.7:p.Val171= | |
| ENST00000394479.3:c.513C>T | ENSP00000377989.3:p.Val171= | |
| NM_001291746.1:c.513C>T | NP_001278675.1:p.Val171= | |
| NM_002908.3:c.513C>T | NP_002899.1:p.Val171= | |
| XM_011533010.1:c.219C>T | XP_011531312.1:p.Val73= | |
| XM_011533010.3:c.219C>T | XP_011531312.1:p.Val73= | |
| XM_017004627.2:c.513C>T | XP_016860116.1:p.Val171= | |
| NM_001291746.2:c.513C>T MANE Select | NP_001278675.1:p.Val171= | |
| NM_002908.4:c.513C>T | NP_002899.1:p.Val171= |