Linked Data
ClinVar Variation Id:
11887
dbSNP Id:
rs140005285
ExAC:
7:139611032 T / C
gnomAD v2:
7-139611032-T-C
gnomAD v3:
7-139911233-T-C
gnomAD v4:
7-139911233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139911233T>C , CM000669.2:g.139911233T>C | GRCh38 |
| NC_000007.13:g.139611032T>C , CM000669.1:g.139611032T>C | GRCh37 |
| NC_000007.12:g.139257501T>C | NCBI36 |
| NG_008422.2:g.137852T>C , LRG_579:g.137852T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336425.10:c.245T>C | ENSP00000338087.7:p.Leu82Pro | |
| ENST00000411653.6:c.245T>C | ENSP00000411326.3:p.Leu82Pro | |
| ENST00000414041.2:c.*100T>C | ENSP00000412710.3:n.*100T>C | |
| ENST00000422328.6:c.*34T>C | ENSP00000415892.3:n.*34T>C | |
| ENST00000438104.6:c.245T>C | ENSP00000388612.3:p.Leu82Pro | |
| ENST00000448866.7:c.245T>C MANE Select | ENSP00000402536.3:p.Leu82Pro | |
| ENST00000455353.6:c.245T>C | ENSP00000391567.3:p.Leu82Pro | |
| ENST00000458722.6:c.245T>C | ENSP00000411274.3:p.Leu82Pro | |
| ENST00000650822.1:c.248T>C | ENSP00000498517.1:p.Leu83Pro | |
| ENST00000652056.1:c.248T>C | ENSP00000498271.1:p.Leu83Pro | |
| ENST00000263552.10:c.248T>C | ENSP00000263552.6:p.Leu83Pro | |
| ENST00000336425.9:c.245T>C | ENSP00000338087.5:p.Leu82Pro | |
| ENST00000411653.5:c.245T>C | ENSP00000411326.1:p.Leu82Pro | |
| ENST00000414041.1:c.*100T>C | ENSP00000412710.1:n.*100T>C | |
| ENST00000414508.6:c.248T>C | ENSP00000392702.2:p.Leu83Pro | |
| ENST00000416849.6:c.248T>C | ENSP00000389414.2:p.Leu83Pro | |
| ENST00000422328.5:c.*34T>C | ENSP00000415892.1:n.*34T>C | |
| ENST00000425687.5:c.44T>C | ENSP00000388736.1:p.Leu15Pro | |
| ENST00000438104.5:c.245T>C | ENSP00000388612.1:p.Leu82Pro | |
| ENST00000448866.5:c.245T>C | ENSP00000402536.1:p.Leu82Pro | |
| ENST00000455353.5:c.245T>C | ENSP00000391567.1:p.Leu82Pro | |
| ENST00000458722.5:c.245T>C | ENSP00000411274.1:p.Leu82Pro | |
| ENST00000462275.5:n.216T>C | ||
| ENST00000476637.5:n.357-24958T>C | ||
| NM_001061.4:c.248T>C | NP_001052.2:p.Leu83Pro | |
| NM_001130966.2:c.248T>C , LRG_579t1:c.248T>C | NP_001124438.1:p.Leu83Pro | |
| NM_001166253.1:c.248T>C , LRG_579t4:c.248T>C | NP_001159725.1:p.Leu83Pro | |
| NM_001166254.1:c.44T>C , LRG_579t3:c.44T>C | NP_001159726.1:p.Leu15Pro | |
| NM_001314028.1:c.188T>C | NP_001300957.1:p.Leu63Pro | |
| NM_030984.3:c.248T>C , LRG_579t2:c.248T>C | NP_112246.2:p.Leu83Pro | |
| NR_029394.1:c.-4294966784T>C | ||
| XM_011516544.1:c.248T>C | XP_011514846.1:p.Leu83Pro | |
| NM_001061.5:c.245T>C | NP_001052.3:p.Leu82Pro | |
| NM_001130966.3:c.245T>C | NP_001124438.2:p.Leu82Pro | |
| NM_001166253.2:c.245T>C | NP_001159725.2:p.Leu82Pro | |
| NM_001166254.2:c.44T>C | NP_001159726.1:p.Leu15Pro | |
| NM_001314028.2:c.188T>C | NP_001300957.1:p.Leu63Pro | |
| NM_001366537.1:c.151-24958T>C | NP_001353466.1:n.151-24958T>C | |
| NM_001366538.1:c.245T>C | NP_001353467.1:p.Leu82Pro | |
| NM_030984.4:c.245T>C | NP_112246.3:p.Leu82Pro | |
| XM_011516544.3:c.248T>C | XP_011514846.1:p.Leu83Pro | |
| XM_017012570.2:c.248T>C | XP_016868059.1:p.Leu83Pro | |
| XM_017012571.2:c.248T>C | XP_016868060.1:p.Leu83Pro | |
| XM_017012572.2:c.248T>C | XP_016868061.1:p.Leu83Pro | |
| XM_024446901.1:c.-11T>C | XP_024302669.1:n.-11T>C | |
| NM_001061.7:c.245T>C MANE Select | NP_001052.3:p.Leu82Pro | |
| NM_001130966.4:c.245T>C | NP_001124438.2:p.Leu82Pro | |
| NM_001166253.3:c.245T>C | NP_001159725.2:p.Leu82Pro | |
| NM_001166254.3:c.44T>C | NP_001159726.1:p.Leu15Pro | |
| NM_001314028.3:c.188T>C | NP_001300957.1:p.Leu63Pro | |
| NM_001366537.2:c.151-24958T>C | NP_001353466.1:n.151-24958T>C | |
| NM_001366538.2:c.245T>C | NP_001353467.1:p.Leu82Pro | |
| NM_030984.5:c.245T>C | NP_112246.3:p.Leu82Pro | |
| NM_001130966.5:c.245T>C | NP_001124438.2:p.Leu82Pro | |
| NM_001166253.4:c.245T>C | NP_001159725.2:p.Leu82Pro | |
| NM_001166254.4:c.44T>C | NP_001159726.1:p.Leu15Pro | |
| NM_001314028.4:c.188T>C | NP_001300957.1:p.Leu63Pro | |
| NM_001366537.3:c.151-24958T>C | NP_001353466.1:n.151-24958T>C | |
| NM_030984.6:c.245T>C | NP_112246.3:p.Leu82Pro |