Linked Data
ClinVar Variation Id:
253017
dbSNP Id:
rs772592456
ExAC:
13:50123709 C / A
gnomAD v2:
13-50123709-C-A
gnomAD v4:
13-49549573-C-A
PubMed:
PMID:27486781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49549573C>A , CM000675.2:g.49549573C>A | GRCh38 |
| NC_000013.10:g.50123709C>A , CM000675.1:g.50123709C>A | GRCh37 |
| NC_000013.9:g.49021710C>A | NCBI36 |
| NG_046892.1:g.41034G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378302.7:c.930G>T MANE Select | ENSP00000367552.2:p.Trp310Cys | |
| ENST00000258646.3:c.930G>T | ENSP00000258646.3:p.Trp310Cys | |
| ENST00000378302.6:c.930G>T | ENSP00000367552.2:p.Trp310Cys | |
| NM_018191.3:c.930G>T | NP_060661.3:p.Trp310Cys | |
| XM_005266441.2:c.930G>T | XP_005266498.1:p.Trp310Cys | |
| XM_011535133.1:c.930G>T | XP_011533435.1:p.Trp310Cys | |
| XM_011535134.1:c.930G>T | XP_011533436.1:p.Trp310Cys | |
| XM_011535135.1:c.543G>T | XP_011533437.1:p.Trp181Cys | |
| XM_011535136.1:c.*117G>T | XP_011533438.1:n.*117G>T | |
| XR_245392.1:n.1407G>T | ||
| XR_941613.1:n.1195G>T | ||
| NM_001352500.1:c.930G>T | NP_001339429.1:p.Trp310Cys | |
| NM_001352501.1:c.930G>T | NP_001339430.1:p.Trp310Cys | |
| NM_001352502.1:c.930G>T | NP_001339431.1:p.Trp310Cys | |
| NM_001352503.1:c.930G>T | NP_001339432.1:p.Trp310Cys | |
| NM_001352504.1:c.930G>T | NP_001339433.1:p.Trp310Cys | |
| NM_001352505.1:c.930G>T | NP_001339434.1:p.Trp310Cys | |
| NM_001352506.1:c.351G>T | NP_001339435.1:p.Trp117Cys | |
| NR_148015.1:n.1349G>T | ||
| NR_148016.1:n.1305G>T | ||
| XM_011535135.2:c.543G>T | XP_011533437.1:p.Trp181Cys | |
| XM_011535136.2:c.*117G>T | XP_011533438.1:n.*117G>T | |
| XR_001749596.1:n.1195G>T | ||
| NM_018191.4:c.930G>T MANE Select | NP_060661.3:p.Trp310Cys | |
| NM_001352500.2:c.930G>T | NP_001339429.1:p.Trp310Cys | |
| NM_001352501.2:c.930G>T | NP_001339430.1:p.Trp310Cys | |
| NM_001352502.2:c.930G>T | NP_001339431.1:p.Trp310Cys | |
| NM_001352503.2:c.930G>T | NP_001339432.1:p.Trp310Cys | |
| NM_001352505.2:c.930G>T | NP_001339434.1:p.Trp310Cys | |
| NM_001352506.2:c.351G>T | NP_001339435.1:p.Trp117Cys | |
| NR_148015.2:n.1324G>T | ||
| NR_148016.2:n.1280G>T | ||
| NM_001352504.2:c.930G>T | NP_001339433.1:p.Trp310Cys |