Linked Data
ClinVar Variation Id:
231745
dbSNP Id:
rs876659333
gnomAD v2:
16-68772276-C-T
gnomAD v3:
16-68738373-C-T
gnomAD v4:
16-68738373-C-T
ERepo:
CA10580073/MONDO:0100488/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738373C>T , CM000678.2:g.68738373C>T | GRCh38 |
| NC_000016.9:g.68772276C>T , CM000678.1:g.68772276C>T | GRCh37 |
| NC_000016.8:g.67329777C>T | NCBI36 |
| NG_008021.1:g.6082C>T , LRG_301:g.6082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.125C>T MANE Select | ENSP00000261769.4:p.Pro42Leu | |
| ENST00000261769.9:c.125C>T | ENSP00000261769.4:p.Pro42Leu | |
| ENST00000422392.6:c.125C>T | ENSP00000414946.2:p.Pro42Leu | |
| ENST00000566510.5:c.125C>T | ENSP00000458139.1:p.Pro42Leu | |
| ENST00000566612.5:c.125C>T | ENSP00000454782.1:p.Pro42Leu | |
| ENST00000611625.4:c.125C>T | ENSP00000481063.1:p.Pro42Leu | |
| ENST00000612417.4:c.125C>T | ENSP00000478360.1:p.Pro42Leu | |
| ENST00000621016.4:c.125C>T | ENSP00000480664.1:p.Pro42Leu | |
| NM_004360.3:c.125C>T , LRG_301t1:c.125C>T | NP_004351.1:p.Pro42Leu | |
| NM_001317184.1:c.125C>T | NP_001304113.1:p.Pro42Leu | |
| NM_001317185.1:c.-1491C>T | NP_001304114.1:n.-1491C>T | |
| NM_001317186.1:c.-1695C>T | NP_001304115.1:n.-1695C>T | |
| NM_004360.4:c.125C>T | NP_004351.1:p.Pro42Leu | |
| NM_004360.5:c.125C>T MANE Select | NP_004351.1:p.Pro42Leu | |
| NM_001317184.2:c.125C>T | NP_001304113.1:p.Pro42Leu | |
| NM_001317185.2:c.-1491C>T | NP_001304114.1:n.-1491C>T | |
| NM_001317186.2:c.-1695C>T | NP_001304115.1:n.-1695C>T |