Linked Data
ClinVar Variation Id:
967336
ClinVar RCV Id:
RCV002564021
dbSNP Id:
rs777752880
ExAC:
1:245027187 C / A
gnomAD v2:
1-245027187-C-A
gnomAD v4:
1-244863885-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863885C>A , CM000663.2:g.244863885C>A | GRCh38 |
| NC_000001.10:g.245027187C>A , CM000663.1:g.245027187C>A | GRCh37 |
| NC_000001.9:g.243093810C>A | NCBI36 |
| NG_042184.1:g.5641G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.101G>T | ||
| ENST00000283179.14:c.423G>T | ENSP00000283179.10:p.Gly141= | |
| ENST00000444376.7:c.423G>T | ENSP00000393151.2:p.Gly141= | |
| ENST00000476241.2:n.608G>T | ||
| ENST00000638475.1:c.207G>T | ENSP00000491305.1:p.Gly69= | |
| ENST00000638952.1:n.654G>T | ||
| ENST00000640218.2:c.423G>T MANE Select | ENSP00000491215.1:p.Gly141= | |
| ENST00000640306.1:c.423G>T | ENSP00000491685.1:p.Gly141= | |
| ENST00000640440.1:c.123G>T | ENSP00000491263.1:p.Gly41= | |
| ENST00000649899.1:n.647G>T | ||
| ENST00000283179.13:c.423G>T | ENSP00000283179.9:p.Gly141= | |
| ENST00000444376.6:c.423G>T | ENSP00000393151.2:p.Gly141= | |
| ENST00000476241.1:n.607G>T | ||
| NM_004501.3:c.423G>T | NP_004492.2:p.Gly141= | |
| NM_031844.2:c.423G>T | NP_114032.2:p.Gly141= | |
| NM_031844.3:c.423G>T MANE Select | NP_114032.2:p.Gly141= |