Linked Data
ClinVar Variation Id:
3030985
ClinVar RCV Id:
RCV004548861
dbSNP Id:
rs979725863
gnomAD v3:
7-23165751-A-C
gnomAD v4:
7-23165751-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165751A>C , CM000669.2:g.23165751A>C | GRCh38 |
| NC_000007.13:g.23205370A>C , CM000669.1:g.23205370A>C | GRCh37 |
| NC_000007.12:g.23171895A>C | NCBI36 |
| NG_016983.1:g.65018A>C | |
| NG_016983.2:g.65018A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.990A>C MANE Select | ENSP00000343273.4:p.Ala330= | |
| ENST00000339077.9:c.990A>C | ENSP00000343273.4:p.Ala330= | |
| ENST00000409689.5:c.846A>C | ENSP00000386263.1:p.Ala282= | |
| ENST00000521082.5:c.*998A>C | ENSP00000430351.1:n.*998A>C | |
| NM_001031710.2:c.990A>C | NP_001026880.2:p.Ala330= | |
| NM_018846.4:c.846A>C | NP_061334.4:p.Ala282= | |
| NR_033328.1:n.1414A>C | ||
| XM_006715753.1:c.1029A>C | XP_006715816.1:p.Ala343= | |
| XM_006715754.1:c.963A>C | XP_006715817.1:p.Ala321= | |
| XM_006715755.1:c.963A>C | XP_006715818.1:p.Ala321= | |
| XM_006715756.1:c.885A>C | XP_006715819.1:p.Ala295= | |
| XM_006715753.3:c.1029A>C | XP_006715816.1:p.Ala343= | |
| XM_006715754.3:c.963A>C | XP_006715817.1:p.Ala321= | |
| XM_006715755.3:c.963A>C | XP_006715818.1:p.Ala321= | |
| XM_006715756.3:c.885A>C | XP_006715819.1:p.Ala295= | |
| XM_017012439.2:c.924A>C | XP_016867928.1:p.Ala308= | |
| NM_001031710.3:c.990A>C MANE Select | NP_001026880.2:p.Ala330= | |
| NM_018846.5:c.846A>C | NP_061334.4:p.Ala282= | |
| NR_033328.2:n.1363A>C |