Linked Data
ClinVar Variation Id:
841083
ClinVar RCV Id:
RCV002552522
dbSNP Id:
rs761083670
ExAC:
16:50763781 C / T
gnomAD v2:
16-50763781-C-T
gnomAD v3:
16-50729870-C-T
gnomAD v4:
16-50729870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50729870C>T , CM000678.2:g.50729870C>T | GRCh38 |
| NC_000016.9:g.50763781C>T , CM000678.1:g.50763781C>T | GRCh37 |
| NC_000016.8:g.49321282C>T | NCBI36 |
| NG_007508.1:g.37732C>T , LRG_177:g.37732C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.*52C>T | ENSP00000493088.1:n.*52C>T | |
| ENST00000646677.2:c.*703C>T | ENSP00000496533.1:n.*703C>T | |
| ENST00000697428.1:n.2416C>T | ||
| ENST00000641284.1:c.*52C>T | ENSP00000493088.1:n.*52C>T | |
| ENST00000646677.1:c.*703C>T | ENSP00000496533.1:n.*703C>T | |
| ENST00000647318.2:c.2938C>T MANE Select | ENSP00000495993.1:p.Leu980Phe | |
| ENST00000300589.6:c.3019C>T | ENSP00000300589.2:p.Leu1007Phe | |
| NM_001293557.1:c.2938C>T | NP_001280486.1:p.Leu980Phe | |
| NM_022162.2:c.3019C>T | NP_071445.1:p.Leu1007Phe | |
| XM_005256084.2:c.2938C>T | XP_005256141.1:p.Leu980Phe | |
| XM_006721242.2:c.2854C>T | XP_006721305.1:p.Leu952Phe | |
| XM_011523257.1:c.2515C>T | XP_011521559.1:p.Leu839Phe | |
| XM_011523258.1:c.2515C>T | XP_011521560.1:p.Leu839Phe | |
| XM_011523259.1:c.2353C>T | XP_011521561.1:p.Leu785Phe | |
| XM_005256084.4:c.2938C>T | XP_005256141.1:p.Leu980Phe | |
| XM_006721242.4:c.2854C>T | XP_006721305.1:p.Leu952Phe | |
| XM_011523259.2:c.2353C>T | XP_011521561.1:p.Leu785Phe | |
| XM_017023535.1:c.2446C>T | XP_016879024.1:p.Leu816Phe | |
| XM_017023536.1:c.2353C>T | XP_016879025.1:p.Leu785Phe | |
| XM_017023537.1:c.2353C>T | XP_016879026.1:p.Leu785Phe | |
| XM_017023538.1:c.2353C>T | XP_016879027.1:p.Leu785Phe | |
| NM_001293557.2:c.2938C>T | NP_001280486.1:p.Leu980Phe | |
| NM_001370466.1:c.2938C>T MANE Select | NP_001357395.1:p.Leu980Phe | |
| NM_022162.3:c.3019C>T | NP_071445.1:p.Leu1007Phe | |
| NR_163434.1:n.3150C>T |