Linked Data
ClinVar Variation Id:
103336
ClinVar RCV Id:
RCV000089596
dbSNP Id:
rs199475856
ExAC:
11:7981272 A / G
gnomAD v2:
11-7981272-A-G
gnomAD v3:
11-7959725-A-G
gnomAD v4:
11-7959725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7959725A>G , CM000673.2:g.7959725A>G | GRCh38 |
| NC_000011.9:g.7981272A>G , CM000673.1:g.7981272A>G | GRCh37 |
| NC_000011.8:g.7937848A>G | NCBI36 |
| NG_046899.1:g.10700T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691676.1:c.1887T>C MANE Select | ENSP00000509542.1:p.Asp629= | |
| ENST00000328600.3:c.1887T>C | ENSP00000327763.2:p.Asp629= | |
| ENST00000328600.2:c.1887T>C | ENSP00000327763.2:p.Asp629= | |
| NM_176821.3:c.1887T>C | NP_789791.1:p.Asp629= | |
| XM_011520043.1:c.1887T>C | XP_011518345.1:p.Asp629= | |
| XM_011520043.3:c.1887T>C | XP_011518345.1:p.Asp629= | |
| NM_176821.4:c.1887T>C | NP_789791.1:p.Asp629= | |
| NM_001391958.1:c.1887T>C MANE Select | NP_001378887.1:p.Asp629= |