Linked Data
ClinVar Variation Id:
253016
dbSNP Id:
rs368217569
ExAC:
13:50123720 C / T
gnomAD v2:
13-50123720-C-T
gnomAD v3:
13-49549584-C-T
gnomAD v4:
13-49549584-C-T
PubMed:
PMID:27486781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49549584C>T , CM000675.2:g.49549584C>T | GRCh38 |
| NC_000013.10:g.50123720C>T , CM000675.1:g.50123720C>T | GRCh37 |
| NC_000013.9:g.49021721C>T | NCBI36 |
| NG_046892.1:g.41023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378302.7:c.919G>A MANE Select | ENSP00000367552.2:p.Val307Met | |
| ENST00000258646.3:c.919G>A | ENSP00000258646.3:p.Val307Met | |
| ENST00000378302.6:c.919G>A | ENSP00000367552.2:p.Val307Met | |
| NM_018191.3:c.919G>A | NP_060661.3:p.Val307Met | |
| XM_005266441.2:c.919G>A | XP_005266498.1:p.Val307Met | |
| XM_011535133.1:c.919G>A | XP_011533435.1:p.Val307Met | |
| XM_011535134.1:c.919G>A | XP_011533436.1:p.Val307Met | |
| XM_011535135.1:c.532G>A | XP_011533437.1:p.Val178Met | |
| XM_011535136.1:c.*106G>A | XP_011533438.1:n.*106G>A | |
| XR_245392.1:n.1396G>A | ||
| XR_941613.1:n.1184G>A | ||
| XR_941614.1:n.1342G>A | ||
| NM_001352500.1:c.919G>A | NP_001339429.1:p.Val307Met | |
| NM_001352501.1:c.919G>A | NP_001339430.1:p.Val307Met | |
| NM_001352502.1:c.919G>A | NP_001339431.1:p.Val307Met | |
| NM_001352503.1:c.919G>A | NP_001339432.1:p.Val307Met | |
| NM_001352504.1:c.919G>A | NP_001339433.1:p.Val307Met | |
| NM_001352505.1:c.919G>A | NP_001339434.1:p.Val307Met | |
| NM_001352506.1:c.340G>A | NP_001339435.1:p.Val114Met | |
| NR_148015.1:n.1338G>A | ||
| NR_148016.1:n.1294G>A | ||
| XM_011535135.2:c.532G>A | XP_011533437.1:p.Val178Met | |
| XM_011535136.2:c.*106G>A | XP_011533438.1:n.*106G>A | |
| XR_001749596.1:n.1184G>A | ||
| NM_018191.4:c.919G>A MANE Select | NP_060661.3:p.Val307Met | |
| NM_001352500.2:c.919G>A | NP_001339429.1:p.Val307Met | |
| NM_001352501.2:c.919G>A | NP_001339430.1:p.Val307Met | |
| NM_001352502.2:c.919G>A | NP_001339431.1:p.Val307Met | |
| NM_001352503.2:c.919G>A | NP_001339432.1:p.Val307Met | |
| NM_001352505.2:c.919G>A | NP_001339434.1:p.Val307Met | |
| NM_001352506.2:c.340G>A | NP_001339435.1:p.Val114Met | |
| NR_148015.2:n.1313G>A | ||
| NR_148016.2:n.1269G>A | ||
| NM_001352504.2:c.919G>A | NP_001339433.1:p.Val307Met |