Linked Data
ClinVar Variation Id:
848973
ClinVar RCV Id:
RCV001052842
dbSNP Id:
rs150675114
ExAC:
7:120428869 A / G
gnomAD v2:
7-120428869-A-G
gnomAD v3:
7-120788815-A-G
gnomAD v4:
7-120788815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788815A>G , CM000669.2:g.120788815A>G | GRCh38 |
| NC_000007.13:g.120428869A>G , CM000669.1:g.120428869A>G | GRCh37 |
| NC_000007.12:g.120216105A>G | NCBI36 |
| NG_023203.1:g.74309T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.695T>C MANE Select | ENSP00000222747.3:p.Val232Ala | |
| ENST00000222747.7:c.695T>C | ENSP00000222747.3:p.Val232Ala | |
| ENST00000415871.5:c.695T>C | ENSP00000397699.1:p.Val232Ala | |
| ENST00000450414.5:c.674T>C | ENSP00000397411.1:n.674T>C | |
| NM_012338.3:c.695T>C | NP_036470.1:p.Val232Ala | |
| XM_005250239.1:c.695T>C | XP_005250296.1:p.Val232Ala | |
| XM_011515993.1:c.695T>C | XP_011514295.1:p.Val232Ala | |
| XM_011515994.1:c.695T>C | XP_011514296.1:p.Val232Ala | |
| XM_005250239.3:c.695T>C | XP_005250296.1:p.Val232Ala | |
| XM_017011913.1:c.620T>C | XP_016867402.1:p.Val207Ala | |
| NM_012338.4:c.695T>C MANE Select | NP_036470.1:p.Val232Ala |