Linked Data
ClinVar Variation Id:
1957298
ClinVar RCV Id:
RCV002706195
dbSNP Id:
rs1055158308
gnomAD v2:
6-42928647-T-C
gnomAD v3:
6-42960909-T-C
gnomAD v4:
6-42960909-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960909T>C , CM000668.2:g.42960909T>C | GRCh38 |
| NC_000006.11:g.42928647T>C , CM000668.1:g.42928647T>C | GRCh37 |
| NC_000006.10:g.43036625T>C | NCBI36 |
| NG_008396.1:g.5148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372808.4:c.142T>C MANE Select | ENSP00000361894.3:p.Trp48Arg | |
| ENST00000372808.3:c.142T>C | ENSP00000361894.3:p.Trp48Arg | |
| NM_018960.4:c.142T>C | NP_061833.1:p.Trp48Arg | |
| XM_011514493.1:c.-13-1303T>C | XP_011512795.1:n.-13-1303T>C | |
| XM_011514494.1:c.-13-1303T>C | XP_011512796.1:n.-13-1303T>C | |
| NM_001318856.1:c.9-1303T>C | NP_001305785.1:n.9-1303T>C | |
| NM_001318857.1:c.152-1853T>C | NP_001305786.1:n.152-1853T>C | |
| NM_001318858.1:c.152-1853T>C | NP_001305787.1:n.152-1853T>C | |
| NM_001318865.1:c.142T>C | NP_001305794.1:p.Trp48Arg | |
| NM_018960.5:c.142T>C | NP_061833.1:p.Trp48Arg | |
| NR_134890.1:n.690-1853T>C | ||
| NR_134891.1:n.593-1853T>C | ||
| NR_134892.1:n.593-1303T>C | ||
| NR_134899.1:n.156T>C | ||
| NM_018960.6:c.142T>C MANE Select | NP_061833.1:p.Trp48Arg | |
| NM_001318856.2:c.9-1303T>C | NP_001305785.1:n.9-1303T>C | |
| NM_001318857.2:c.152-1853T>C | NP_001305786.1:n.152-1853T>C | |
| NM_001318858.2:c.152-1853T>C | NP_001305787.1:n.152-1853T>C | |
| NM_001318865.2:c.142T>C | NP_001305794.1:p.Trp48Arg | |
| NR_134890.2:n.340-1853T>C | ||
| NR_134891.2:n.243-1853T>C | ||
| NR_134892.2:n.243-1303T>C | ||
| NR_134899.2:n.156T>C |