Linked Data
ClinVar Variation Id:
211227
ClinVar RCV Id:
RCV000194182
RCV000960925
RCV001105473
RCV001105472
RCV001103552
RCV001833136
RCV002227089
RCV003165435
dbSNP Id:
rs116392938
ExAC:
11:17408796 G / A
gnomAD v2:
11-17408796-G-A
gnomAD v3:
11-17387249-G-A
gnomAD v4:
11-17387249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387249G>A , CM000673.2:g.17387249G>A | GRCh38 |
| NC_000011.9:g.17408796G>A , CM000673.1:g.17408796G>A | GRCh37 |
| NC_000011.8:g.17365372G>A | NCBI36 |
| NG_012446.1:g.6411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.582C>T | ENSP00000508090.1:p.Leu194= | |
| ENST00000682764.1:c.582C>T | ENSP00000506780.1:p.Leu194= | |
| ENST00000339994.5:c.843C>T MANE Select | ENSP00000345708.4:p.Leu281= | |
| ENST00000339994.4:c.843C>T | ENSP00000345708.4:p.Leu281= | |
| ENST00000528731.1:c.582C>T | ENSP00000434755.1:p.Leu194= | |
| NM_000525.3:c.843C>T | NP_000516.3:p.Leu281= | |
| NM_001166290.1:c.582C>T | NP_001159762.1:p.Leu194= | |
| XM_006718226.2:c.582C>T | XP_006718289.1:p.Leu194= | |
| XR_930867.1:n.1001C>T | ||
| XM_006718226.3:c.582C>T | XP_006718289.1:p.Leu194= | |
| XM_017017680.1:c.582C>T | XP_016873169.1:p.Leu194= | |
| NM_001166290.2:c.582C>T | NP_001159762.1:p.Leu194= | |
| NM_001377296.1:c.582C>T | NP_001364225.1:p.Leu194= | |
| NM_001377297.1:c.582C>T | NP_001364226.1:p.Leu194= | |
| NM_000525.4:c.843C>T MANE Select | NP_000516.3:p.Leu281= |