Linked Data
ClinVar Variation Id:
194369
dbSNP Id:
rs141903179
ExAC:
11:68705656 C / T
gnomAD v2:
11-68705656-C-T
gnomAD v3:
11-68938188-C-T
gnomAD v4:
11-68938188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68938188C>T , CM000673.2:g.68938188C>T | GRCh38 |
| NC_000011.9:g.68705656C>T , CM000673.1:g.68705656C>T | GRCh37 |
| NC_000011.8:g.68462232C>T | NCBI36 |
| NG_007976.1:g.39338C>T , LRG_250:g.39338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2618C>T MANE Select | ENSP00000255078.4:p.Pro873Leu | |
| ENST00000674675.1:c.763C>T | ||
| ENST00000674878.1:c.723C>T | ||
| ENST00000675118.1:c.2106C>T | ||
| ENST00000675615.1:c.2611+1097C>T | ENSP00000502413.1:n.2611+1097C>T | |
| ENST00000675648.1:n.1993C>T | ||
| ENST00000675916.1:c.862C>T | ||
| ENST00000676173.1:n.3363C>T | ||
| ENST00000255078.7:c.2618C>T | ENSP00000255078.3:p.Pro873Leu | |
| ENST00000543739.5:n.1611C>T | ||
| ENST00000544521.1:n.449C>T | ||
| NM_002180.2:c.2618C>T , LRG_250t1:c.2618C>T | NP_002171.2:p.Pro873Leu | |
| XM_005273974.2:c.1607C>T | XP_005274031.1:p.Pro536Leu | |
| XM_005273975.2:c.1490C>T | XP_005274032.1:p.Pro497Leu | |
| XM_011544994.1:c.1385C>T | XP_011543296.1:p.Pro462Leu | |
| XR_949903.1:n.2720C>T | ||
| XM_005273975.3:c.1490C>T | XP_005274032.1:p.Pro497Leu | |
| XM_017017669.2:c.1607C>T | XP_016873158.1:p.Pro536Leu | |
| XM_017017670.2:c.1607C>T | XP_016873159.1:p.Pro536Leu | |
| XR_949903.3:n.2716C>T | ||
| NM_002180.3:c.2618C>T MANE Select | NP_002171.2:p.Pro873Leu |