Linked Data
ClinVar Variation Id:
44233
ClinVar RCV Id:
RCV000037212
RCV000205646
RCV000244212
RCV000265252
RCV000323760
RCV000378467
RCV000991843
dbSNP Id:
rs2228387
ExAC:
11:111782284 C / T
gnomAD v2:
11-111782284-C-T
gnomAD v3:
11-111911560-C-T
gnomAD v4:
11-111911560-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111911560C>T , CM000673.2:g.111911560C>T | GRCh38 |
| NC_000011.9:g.111782284C>T , CM000673.1:g.111782284C>T | GRCh37 |
| NC_000011.8:g.111287494C>T | NCBI36 |
| NG_009824.2:g.17163G>A | |
| NG_033080.1:g.3825C>T | |
| NG_009824.3:g.17163G>A | |
| NG_033080.2:g.3825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526180.6:c.165G>A | ENSP00000436051.1:p.Leu55= | |
| ENST00000527899.6:c.165G>A | ENSP00000436089.2:p.Leu55= | |
| ENST00000533475.6:c.165G>A | ENSP00000433560.1:p.Leu55= | |
| ENST00000533879.2:c.165G>A | ENSP00000435931.2:p.Leu55= | |
| ENST00000533971.2:c.165G>A | ENSP00000434269.1:p.Leu55= | |
| ENST00000616970.5:c.165G>A | ENSP00000483554.1:p.Leu55= | |
| ENST00000650687.2:c.165G>A MANE Select | ENSP00000499082.1:p.Leu55= | |
| ENST00000651164.1:c.165G>A | ENSP00000498735.1:p.Leu55= | |
| ENST00000652223.1:n.477G>A | ||
| ENST00000652606.1:n.409G>A | ||
| ENST00000227251.7:c.165G>A | ENSP00000227251.3:p.Leu55= | |
| ENST00000526180.5:c.165G>A | ENSP00000436051.1:p.Leu55= | |
| ENST00000527899.5:c.165G>A | ENSP00000436089.1:p.Leu55= | |
| ENST00000527950.5:c.165G>A | ENSP00000437149.1:p.Leu55= | |
| ENST00000528628.5:c.165G>A | ENSP00000432182.1:p.Leu55= | |
| ENST00000529647.5:c.165G>A | ENSP00000431754.1:p.Leu55= | |
| ENST00000531198.5:c.165G>A | ENSP00000434247.1:p.Leu55= | |
| ENST00000533475.5:c.165G>A | ENSP00000433560.1:p.Leu55= | |
| ENST00000533879.1:c.165G>A | ENSP00000435931.1:p.Leu55= | |
| ENST00000533971.1:c.165G>A | ENSP00000434269.1:p.Leu55= | |
| ENST00000616970.4:c.165G>A | ENSP00000483554.1:p.Leu55= | |
| NM_001289807.1:c.165G>A | NP_001276736.1:p.Leu55= | |
| NM_001289808.1:c.165G>A | NP_001276737.1:p.Leu55= | |
| NM_001885.2:c.165G>A | NP_001876.1:p.Leu55= | |
| XM_011542608.1:c.165G>A | XP_011540910.1:p.Leu55= | |
| NM_001289808.2:c.165G>A MANE Select | NP_001276737.1:p.Leu55= | |
| NM_001368245.1:c.165G>A | NP_001355174.1:p.Leu55= | |
| NM_001885.3:c.165G>A | NP_001876.1:p.Leu55= |