Linked Data
ClinVar Variation Id:
56138
ClinVar RCV Id:
RCV000049547
dbSNP Id:
rs386833621
ExAC:
10:126090357 C / T
gnomAD v2:
10-126090357-C-T
gnomAD v3:
10-124401788-C-T
gnomAD v4:
10-124401788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124401788C>T , CM000672.2:g.124401788C>T | GRCh38 |
| NC_000010.10:g.126090357C>T , CM000672.1:g.126090357C>T | GRCh37 |
| NC_000010.9:g.126080347C>T | NCBI36 |
| NG_008861.1:g.22163G>A , LRG_685:g.22163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.952G>A MANE Select | ENSP00000357838.5:p.Glu318Lys | |
| ENST00000368845.5:c.952G>A | ENSP00000357838.5:p.Glu318Lys | |
| ENST00000467675.5:n.753G>A | ||
| ENST00000471127.1:n.462G>A | ||
| ENST00000539214.5:c.538G>A | ENSP00000439042.1:p.Glu180Lys | |
| NM_000274.3:c.952G>A , LRG_685t1:c.952G>A | NP_000265.1:p.Glu318Lys | |
| NM_001171814.1:c.538G>A | NP_001165285.1:p.Glu180Lys | |
| XM_006717871.2:c.952G>A | XP_006717934.1:p.Glu318Lys | |
| XM_011539833.1:c.952G>A | XP_011538135.1:p.Glu318Lys | |
| XM_011539834.1:c.952G>A | XP_011538136.1:p.Glu318Lys | |
| NM_001322965.1:c.952G>A | NP_001309894.1:p.Glu318Lys | |
| NM_001322966.1:c.952G>A | NP_001309895.1:p.Glu318Lys | |
| NM_001322967.1:c.952G>A | NP_001309896.1:p.Glu318Lys | |
| NM_001322968.1:c.952G>A | NP_001309897.1:p.Glu318Lys | |
| NM_001322969.1:c.952G>A | NP_001309898.1:p.Glu318Lys | |
| NM_001322970.1:c.952G>A | NP_001309899.1:p.Glu318Lys | |
| NM_001322971.1:c.631G>A | NP_001309900.1:p.Glu211Lys | |
| NM_001322974.1:c.352G>A | NP_001309903.1:p.Glu118Lys | |
| XM_017016279.1:c.352G>A | XP_016871768.1:p.Glu118Lys | |
| NM_000274.4:c.952G>A MANE Select | NP_000265.1:p.Glu318Lys | |
| NM_001322965.2:c.952G>A | NP_001309894.1:p.Glu318Lys | |
| NM_001322966.2:c.952G>A | NP_001309895.1:p.Glu318Lys | |
| NM_001322967.2:c.952G>A | NP_001309896.1:p.Glu318Lys | |
| NM_001322968.2:c.952G>A | NP_001309897.1:p.Glu318Lys | |
| NM_001322969.2:c.952G>A | NP_001309898.1:p.Glu318Lys | |
| NM_001322970.2:c.952G>A | NP_001309899.1:p.Glu318Lys | |
| NM_001322971.2:c.631G>A | NP_001309900.1:p.Glu211Lys | |
| NM_001322974.2:c.352G>A | NP_001309903.1:p.Glu118Lys | |
| NM_001171814.2:c.538G>A | NP_001165285.1:p.Glu180Lys |