Linked Data
ClinVar Variation Id:
430458
dbSNP Id:
rs772913758
ExAC:
8:103251102 T / C
gnomAD v2:
8-103251102-T-C
gnomAD v4:
8-102238874-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102238874T>C , CM000670.2:g.102238874T>C | GRCh38 |
| NC_000008.10:g.103251102T>C , CM000670.1:g.103251102T>C | GRCh37 |
| NC_000008.9:g.103320278T>C | NCBI36 |
| NG_016617.1:g.5245A>G , LRG_788:g.5245A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.1A>G MANE Select | ENSP00000251810.3:p.Met1Val | |
| ENST00000251810.7:c.1A>G | ENSP00000251810.3:p.Met1Val | |
| ENST00000395912.6:c.1A>G | ENSP00000379248.2:p.Met1Val | |
| ENST00000519317.5:c.1A>G | ENSP00000430641.1:p.Met1Val | |
| ENST00000519962.5:c.1A>G | ENSP00000429140.1:p.Met1Val | |
| ENST00000522394.1:c.1A>G | ENSP00000429578.1:p.Met1Val | |
| ENST00000523957.1:c.1A>G | ENSP00000427830.1:p.Met1Val | |
| NM_001172478.1:c.1A>G | NP_001165949.1:p.Met1Val | |
| NM_015713.4:c.1A>G , LRG_788t2:c.1A>G | NP_056528.2:p.Met1Val | |
| NM_001172478.2:c.1A>G | NP_001165949.1:p.Met1Val | |
| NM_015713.5:c.1A>G MANE Select | NP_056528.2:p.Met1Val |