Linked Data
ClinVar Variation Id:
448702
dbSNP Id:
rs148833310
ExAC:
4:184600605 C / G
gnomAD v2:
4-184600605-C-G
gnomAD v3:
4-183679452-C-G
gnomAD v4:
4-183679452-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183679452C>G , CM000666.2:g.183679452C>G | GRCh38 |
| NC_000004.11:g.184600605C>G , CM000666.1:g.184600605C>G | GRCh37 |
| NC_000004.10:g.184837599C>G | NCBI36 |
| NG_033102.1:g.25186C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.931C>G MANE Select | ENSP00000335371.6:p.Leu311Val | |
| ENST00000334690.10:c.931C>G | ENSP00000335371.6:p.Leu311Val | |
| ENST00000357207.8:c.931C>G | ENSP00000349738.4:p.Leu311Val | |
| ENST00000505676.5:c.163-756C>G | ENSP00000422915.1:n.163-756C>G | |
| NM_021942.5:c.931C>G | NP_068761.4:p.Leu311Val | |
| NM_199053.2:c.931C>G | NP_951008.1:p.Leu311Val | |
| XM_011532180.1:c.931C>G | XP_011530482.1:p.Leu311Val | |
| XM_017008537.2:c.931C>G | XP_016864026.1:p.Leu311Val | |
| XM_017008538.2:c.931C>G | XP_016864027.1:p.Leu311Val | |
| XM_024454179.1:c.931C>G | XP_024309947.1:p.Leu311Val | |
| XM_024454180.1:c.931C>G | XP_024309948.1:p.Leu311Val | |
| XM_024454181.1:c.-326C>G | XP_024309949.1:n.-326C>G | |
| XR_001741315.2:n.1123C>G | ||
| NM_021942.6:c.931C>G MANE Select | NP_068761.4:p.Leu311Val | |
| NM_199053.3:c.931C>G | NP_951008.1:p.Leu311Val |