Linked Data
ClinVar Variation Id:
451229
dbSNP Id:
rs768565928
ExAC:
2:238267184 C / G
gnomAD v2:
2-238267184-C-G
gnomAD v4:
2-237358541-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237358541C>G , CM000664.2:g.237358541C>G | GRCh38 |
| NC_000002.11:g.238267184C>G , CM000664.1:g.238267184C>G | GRCh37 |
| NC_000002.10:g.237931923C>G | NCBI36 |
| NG_008676.1:g.60667G>C , LRG_473:g.60667G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5833G>C | ENSP00000315873.4:p.Val1945Leu | |
| ENST00000295550.9:c.6451G>C MANE Select | ENSP00000295550.4:p.Val2151Leu | |
| ENST00000295550.8:c.6451G>C | ENSP00000295550.4:p.Val2151Leu | |
| ENST00000347401.7:c.4630G>C | ENSP00000315609.4:p.Val1544Leu | |
| ENST00000353578.8:c.5833G>C | ENSP00000315873.4:p.Val1945Leu | |
| ENST00000409809.5:c.5833G>C | ENSP00000386844.1:p.Val1945Leu | |
| ENST00000472056.5:c.4630G>C | ENSP00000418285.1:p.Val1544Leu | |
| NM_004369.3:c.6451G>C , LRG_473t1:c.6451G>C | NP_004360.2:p.Val2151Leu | |
| NM_057166.4:c.4630G>C | NP_476507.3:p.Val1544Leu | |
| NM_057167.3:c.5833G>C | NP_476508.2:p.Val1945Leu | |
| XM_005246065.1:c.5851G>C | XP_005246122.1:p.Val1951Leu | |
| XM_005246066.1:c.5230G>C | XP_005246123.1:p.Val1744Leu | |
| XM_006712253.1:c.5950G>C | XP_006712316.1:p.Val1984Leu | |
| XM_011510574.1:c.6448G>C | XP_011508876.1:p.Val2150Leu | |
| XM_011510575.1:c.4045G>C | XP_011508877.1:p.Val1349Leu | |
| XM_017003304.1:c.4045G>C | XP_016858793.1:p.Val1349Leu | |
| XM_024452684.1:c.5230G>C | XP_024308452.1:p.Val1744Leu | |
| NM_004369.4:c.6451G>C MANE Select | NP_004360.2:p.Val2151Leu | |
| NM_057166.5:c.4630G>C | NP_476507.3:p.Val1544Leu | |
| NM_057167.4:c.5833G>C | NP_476508.2:p.Val1945Leu |