Linked Data
ClinVar Variation Id:
2992777
ClinVar RCV Id:
RCV003857888
dbSNP Id:
rs1480387613
gnomAD v3:
5-140114697-G-A
gnomAD v4:
5-140114697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114697G>A , CM000667.2:g.140114697G>A | GRCh38 |
| NC_000005.9:g.139494282G>A , CM000667.1:g.139494282G>A | GRCh37 |
| NC_000005.8:g.139474466G>A | NCBI36 |
| NG_041813.1:g.5575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.516G>A MANE Select | ENSP00000332706.3:p.Gln172= | |
| ENST00000651386.1:c.516G>A | ENSP00000499133.1:p.Gln172= | |
| ENST00000331327.4:c.516G>A | ENSP00000332706.3:p.Gln172= | |
| NM_005859.4:c.516G>A | NP_005850.1:p.Gln172= | |
| NM_005859.5:c.516G>A MANE Select | NP_005850.1:p.Gln172= |