Linked Data
ClinVar Variation Id:
577611
ClinVar RCV Id:
RCV000700412
dbSNP Id:
rs979325432
gnomAD v4:
19-10156397-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156397G>C , CM000681.2:g.10156397G>C | GRCh38 |
| NC_000019.9:g.10267073G>C , CM000681.1:g.10267073G>C | GRCh37 |
| NC_000019.8:g.10128073G>C | NCBI36 |
| NG_028016.3:g.79890C>G , LRG_362:g.79890C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1393C>G MANE Select | ENSP00000352516.3:p.Leu465Val | |
| ENST00000676604.1:n.1005C>G | ||
| ENST00000676610.1:c.1345C>G | ENSP00000504236.1:p.Leu449Val | |
| ENST00000676820.1:n.1401C>G | ||
| ENST00000676868.1:n.2029C>G | ||
| ENST00000677013.1:c.*1035C>G | ENSP00000503135.1:n.*1035C>G | |
| ENST00000677250.1:c.*465C>G | ENSP00000502894.1:n.*465C>G | |
| ENST00000677616.1:c.1036C>G | ENSP00000503055.1:p.Leu346Val | |
| ENST00000677634.1:c.1345C>G | ENSP00000504246.1:p.Leu449Val | |
| ENST00000677685.1:c.*570C>G | ENSP00000503407.1:n.*570C>G | |
| ENST00000677783.1:n.1815C>G | ||
| ENST00000677946.1:c.1345C>G | ENSP00000504202.1:p.Leu449Val | |
| ENST00000678024.1:n.1488C>G | ||
| ENST00000678694.1:n.666C>G | ||
| ENST00000678804.1:c.1345C>G | ENSP00000503853.1:p.Leu449Val | |
| ENST00000679103.1:c.1345C>G | ENSP00000503151.1:p.Leu449Val | |
| ENST00000679313.1:c.1345C>G | ENSP00000504512.1:p.Leu449Val | |
| ENST00000340748.8:c.1345C>G | ENSP00000345739.3:p.Leu449Val | |
| ENST00000359526.8:c.1393C>G | ENSP00000352516.3:p.Leu465Val | |
| ENST00000540357.5:c.337C>G | ENSP00000440457.2:p.Leu113Val | |
| ENST00000585843.1:n.550C>G | ||
| ENST00000592705.5:c.*1083C>G | ENSP00000466657.1:n.*1083C>G | |
| NM_001130823.1:c.1393C>G , LRG_362t1:c.1393C>G | NP_001124295.1:p.Leu465Val | |
| NM_001379.2:c.1345C>G | NP_001370.1:p.Leu449Val | |
| XM_011527772.1:c.1393C>G | XP_011526074.1:p.Leu465Val | |
| XM_011527773.1:c.1345C>G | XP_011526075.1:p.Leu449Val | |
| XM_011527774.1:c.982C>G | XP_011526076.1:p.Leu328Val | |
| NM_001130823.2:c.1393C>G | NP_001124295.1:p.Leu465Val | |
| NM_001318730.1:c.1345C>G | NP_001305659.1:p.Leu449Val | |
| NM_001318731.1:c.1030C>G | NP_001305660.1:p.Leu344Val | |
| NM_001379.3:c.1345C>G | NP_001370.1:p.Leu449Val | |
| NM_001130823.3:c.1393C>G MANE Select | NP_001124295.1:p.Leu465Val | |
| NM_001318730.2:c.1345C>G | NP_001305659.1:p.Leu449Val | |
| NM_001318731.2:c.1030C>G | NP_001305660.1:p.Leu344Val | |
| NM_001379.4:c.1345C>G | NP_001370.1:p.Leu449Val |