Linked Data
ClinVar Variation Id:
796894
ClinVar RCV Id:
RCV000980322
dbSNP Id:
rs200364214
ExAC:
11:8111648 G / A
gnomAD v2:
11-8111648-G-A
gnomAD v3:
11-8090101-G-A
gnomAD v4:
11-8090101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090101G>A , CM000673.2:g.8090101G>A | GRCh38 |
| NC_000011.9:g.8111648G>A , CM000673.1:g.8111648G>A | GRCh37 |
| NC_000011.8:g.8068224G>A | NCBI36 |
| NG_029912.1:g.56469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.123G>A MANE Select | ENSP00000299506.3:p.Lys41= | |
| ENST00000299506.2:c.123G>A | ENSP00000299506.2:p.Lys41= | |
| ENST00000305253.8:c.288G>A | ENSP00000305426.4:p.Lys96= | |
| ENST00000534099.5:c.141G>A | ENSP00000434400.1:p.Lys47= | |
| NM_003320.4:c.288G>A | NP_003311.2:p.Lys96= | |
| NM_177972.2:c.123G>A | NP_813977.1:p.Lys41= | |
| XM_005253109.2:c.249G>A | XP_005253166.1:p.Lys83= | |
| XM_011520344.1:c.159G>A | XP_011518646.1:p.Lys53= | |
| XM_005253109.3:c.249G>A | XP_005253166.1:p.Lys83= | |
| XM_011520344.2:c.159G>A | XP_011518646.1:p.Lys53= | |
| NM_177972.3:c.123G>A MANE Select | NP_813977.1:p.Lys41= | |
| NM_003320.5:c.288G>A | NP_003311.2:p.Lys96= |