Linked Data
ClinVar Variation Id:
1463446
ClinVar RCV Id:
RCV001956637
dbSNP Id:
rs751654320
ExAC:
17:61914871 T / C
gnomAD v2:
17-61914871-T-C
gnomAD v3:
17-63837511-T-C
gnomAD v4:
17-63837511-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837511T>C , CM000679.2:g.63837511T>C | GRCh38 |
| NC_000017.10:g.61914871T>C , CM000679.1:g.61914871T>C | GRCh37 |
| NC_000017.9:g.59268603T>C | NCBI36 |
| NG_053004.1:g.10481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.219A>G | ||
| ENST00000698016.1:c.190A>G | ENSP00000513502.1:p.Met64Val | |
| ENST00000698022.1:c.148A>G | ENSP00000513504.1:p.Met50Val | |
| ENST00000698027.1:c.190A>G | ENSP00000513505.1:p.Met64Val | |
| ENST00000448276.7:c.331A>G MANE Select | ENSP00000392617.2:p.Met111Val | |
| ENST00000225742.13:c.106A>G | ENSP00000225742.9:p.Met36Val | |
| ENST00000323347.14:c.187A>G | ENSP00000318451.10:p.Met63Val | |
| ENST00000448276.6:c.331A>G | ENSP00000392617.2:p.Met111Val | |
| ENST00000577686.1:n.53-274A>G | ||
| ENST00000580054.1:c.115A>G | ENSP00000463793.1:p.Met39Val | |
| ENST00000584400.5:c.217-274A>G | ENSP00000464503.1:n.217-274A>G | |
| ENST00000613943.4:c.220A>G | ENSP00000483605.1:p.Met74Val | |
| NM_001098426.1:c.331A>G | NP_001091896.1:p.Met111Val | |
| XM_005257604.2:c.106A>G | XP_005257661.2:p.Met36Val | |
| NM_001330439.1:c.106A>G | NP_001317368.1:p.Met36Val | |
| NM_001330440.1:c.187A>G | NP_001317369.1:p.Met63Val | |
| NM_001098426.2:c.331A>G MANE Select | NP_001091896.1:p.Met111Val | |
| NM_001330440.2:c.187A>G | NP_001317369.1:p.Met63Val |