Linked Data
ClinVar Variation Id:
3022369
ClinVar RCV Id:
RCV003881448
dbSNP Id:
rs779348306
ExAC:
1:40431217 C / T
gnomAD v2:
1-40431217-C-T
gnomAD v3:
1-39965545-C-T
gnomAD v4:
1-39965545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39965545C>T , CM000663.2:g.39965545C>T | GRCh38 |
| NC_000001.10:g.40431217C>T , CM000663.1:g.40431217C>T | GRCh37 |
| NC_000001.9:g.40203804C>T | NCBI36 |
| NG_053084.1:g.15434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372811.10:c.552C>T MANE Select | ENSP00000361898.6:p.Ala184= | |
| ENST00000372809.5:c.591C>T | ENSP00000361895.5:p.Ala197= | |
| ENST00000372811.9:c.552C>T | ENSP00000361898.5:p.Ala184= | |
| ENST00000420632.6:c.84C>T | ENSP00000391261.2:p.Ala28= | |
| ENST00000434861.5:c.546C>T | ENSP00000407606.1:p.Ala182= | |
| ENST00000469745.5:n.464C>T | ||
| ENST00000480630.5:n.1199C>T | ||
| ENST00000483824.5:n.687C>T | ||
| NM_001136493.2:c.591C>T | NP_001129965.1:p.Ala197= | |
| NM_001287808.1:c.84C>T | NP_001274737.1:p.Ala28= | |
| NM_001287809.1:c.441C>T | NP_001274738.1:p.Ala147= | |
| NM_032793.4:c.552C>T | NP_116182.2:p.Ala184= | |
| NR_109896.1:n.733C>T | ||
| XM_005271285.1:c.546C>T | XP_005271342.1:p.Ala182= | |
| XM_011542312.1:c.552C>T | XP_011540614.1:p.Ala184= | |
| XR_946783.1:n.700C>T | ||
| NM_001349821.1:c.546C>T | NP_001336750.1:p.Ala182= | |
| NM_001349822.1:c.552C>T | NP_001336751.1:p.Ala184= | |
| NM_001349823.1:c.207C>T | NP_001336752.1:p.Ala69= | |
| NM_001136493.3:c.591C>T | NP_001129965.1:p.Ala197= | |
| NM_001287809.2:c.441C>T | NP_001274738.1:p.Ala147= | |
| NM_001349821.2:c.546C>T | NP_001336750.1:p.Ala182= | |
| NM_001349822.2:c.552C>T | NP_001336751.1:p.Ala184= | |
| NM_001349823.2:c.207C>T | NP_001336752.1:p.Ala69= | |
| NM_032793.5:c.552C>T MANE Select | NP_116182.2:p.Ala184= | |
| NR_109896.2:n.700C>T | ||
| NM_001287808.2:c.84C>T | NP_001274737.1:p.Ala28= |