Linked Data
ClinVar Variation Id:
136442
ClinVar RCV Id:
RCV000123742
RCV000198270
RCV000212000
RCV001082779
RCV001356417
RCV001798414
RCV003315836
dbSNP Id:
rs141460670
ExAC:
11:108151836 T / C
gnomAD v2:
11-108151836-T-C
gnomAD v3:
11-108281109-T-C
gnomAD v4:
11-108281109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108281109T>C , CM000673.2:g.108281109T>C | GRCh38 |
| NC_000011.9:g.108151836T>C , CM000673.1:g.108151836T>C | GRCh37 |
| NC_000011.8:g.107657046T>C | NCBI36 |
| NG_009830.1:g.63278T>C , LRG_135:g.63278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3517T>C | ENSP00000388058.2:p.Leu1173= | |
| ENST00000713593.1:c.*2988T>C | ENSP00000518889.1:n.*2988T>C | |
| ENST00000278616.9:c.3517T>C | ENSP00000278616.4:p.Leu1173= | |
| ENST00000683174.1:n.3667T>C | ||
| ENST00000527805.6:c.3517T>C | ENSP00000435747.2:p.Leu1173= | |
| ENST00000675595.1:c.3352T>C | ENSP00000502563.1:p.Leu1118= | |
| ENST00000675843.1:c.3517T>C MANE Select | ENSP00000501606.1:p.Leu1173= | |
| ENST00000278616.8:c.3517T>C | ENSP00000278616.4:p.Leu1173= | |
| ENST00000452508.6:c.3517T>C | ENSP00000388058.2:p.Leu1173= | |
| ENST00000527805.5:c.3517T>C | ENSP00000435747.1:p.Leu1173= | |
| NM_000051.3:c.3517T>C , LRG_135t1:c.3517T>C | NP_000042.3:p.Leu1173= | |
| XM_005271561.3:c.3517T>C | XP_005271618.2:p.Leu1173= | |
| XM_005271562.3:c.3517T>C | XP_005271619.2:p.Leu1173= | |
| XM_006718843.2:c.3517T>C | XP_006718906.1:p.Leu1173= | |
| XM_011542840.1:c.3517T>C | XP_011541142.1:p.Leu1173= | |
| XM_011542841.1:c.3517T>C | XP_011541143.1:p.Leu1173= | |
| XM_011542842.1:c.3352T>C | XP_011541144.1:p.Leu1118= | |
| XM_011542843.1:c.3517T>C | XP_011541145.1:p.Leu1173= | |
| XM_011542844.1:c.2473T>C | XP_011541146.1:p.Leu825= | |
| XM_011542845.1:c.2209T>C | XP_011541147.1:p.Leu737= | |
| XM_011542846.1:c.3517T>C | XP_011541148.1:p.Leu1173= | |
| NM_001351834.1:c.3517T>C | NP_001338763.1:p.Leu1173= | |
| XM_005271562.5:c.3517T>C | XP_005271619.2:p.Leu1173= | |
| XM_006718843.4:c.3517T>C | XP_006718906.1:p.Leu1173= | |
| XM_011542840.3:c.3517T>C | XP_011541142.1:p.Leu1173= | |
| XM_011542842.3:c.3352T>C | XP_011541144.1:p.Leu1118= | |
| XM_011542843.2:c.3517T>C | XP_011541145.1:p.Leu1173= | |
| XM_011542844.3:c.2473T>C | XP_011541146.1:p.Leu825= | |
| XM_011542845.2:c.2209T>C | XP_011541147.1:p.Leu737= | |
| XM_017017789.2:c.3517T>C | XP_016873278.1:p.Leu1173= | |
| XM_017017790.2:c.3517T>C | XP_016873279.1:p.Leu1173= | |
| XM_017017791.1:c.3517T>C | XP_016873280.1:p.Leu1173= | |
| XM_017017792.2:c.3517T>C | XP_016873281.1:p.Leu1173= | |
| XR_002957150.1:n.4250T>C | ||
| NM_001351834.2:c.3517T>C | NP_001338763.1:p.Leu1173= | |
| NM_000051.4:c.3517T>C MANE Select | NP_000042.3:p.Leu1173= |