Linked Data
ClinVar Variation Id:
167275
ClinVar RCV Id:
RCV000153470
dbSNP Id:
rs727504007
ExAC:
5:70883258 G / C
gnomAD v2:
5-70883258-G-C
gnomAD v4:
5-71587431-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71587431G>C , CM000667.2:g.71587431G>C | GRCh38 |
| NC_000005.9:g.70883258G>C , CM000667.1:g.70883258G>C | GRCh37 |
| NC_000005.8:g.70919014G>C | NCBI36 |
| NG_008882.1:g.5144G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.76G>C | ||
| ENST00000505787.8:n.1969+3265G>C | ||
| ENST00000509358.7:c.6G>C | ENSP00000420994.3:p.Trp2Cys | |
| ENST00000510895.7:n.129G>C | ||
| ENST00000629193.3:c.6G>C | ENSP00000486535.2:p.Trp2Cys | |
| ENST00000681968.1:c.-276G>C | ENSP00000508143.1:n.-276G>C | |
| ENST00000682045.1:c.-16+581G>C | ENSP00000507329.1:n.-16+581G>C | |
| ENST00000682214.1:c.-198+581G>C | ENSP00000507336.1:n.-198+581G>C | |
| ENST00000682499.1:n.950+4858G>C | ||
| ENST00000682541.1:c.6G>C | ENSP00000507673.1:p.Trp2Cys | |
| ENST00000682687.1:c.6G>C | ENSP00000507945.1:p.Trp2Cys | |
| ENST00000682727.1:c.6G>C | ENSP00000507393.1:p.Trp2Cys | |
| ENST00000682876.1:c.6G>C | ENSP00000508389.1:p.Trp2Cys | |
| ENST00000683098.1:c.6G>C | ENSP00000507670.1:p.Trp2Cys | |
| ENST00000683258.1:c.6G>C | ENSP00000507448.1:p.Trp2Cys | |
| ENST00000683339.1:c.6G>C | ENSP00000507758.1:p.Trp2Cys | |
| ENST00000683403.1:c.6G>C | ENSP00000507896.1:p.Trp2Cys | |
| ENST00000683429.1:c.-276G>C | ENSP00000507697.1:n.-276G>C | |
| ENST00000683665.1:c.6G>C | ENSP00000507068.1:p.Trp2Cys | |
| ENST00000683789.1:c.6G>C | ENSP00000507012.1:p.Trp2Cys | |
| ENST00000683882.1:c.6G>C | ENSP00000506735.1:p.Trp2Cys | |
| ENST00000684024.1:c.6G>C | ENSP00000507175.1:p.Trp2Cys | |
| ENST00000684254.1:c.6G>C | ENSP00000508001.1:p.Trp2Cys | |
| ENST00000340941.11:c.6G>C MANE Select | ENSP00000343657.6:p.Trp2Cys | |
| ENST00000340941.10:c.6G>C | ENSP00000343657.6:p.Trp2Cys | |
| ENST00000509358.6:c.6G>C | ENSP00000420994.2:p.Trp2Cys | |
| ENST00000512218.6:c.6G>C | ENSP00000423202.2:p.Trp2Cys | |
| ENST00000629193.2:c.6G>C | ENSP00000486535.1:p.Trp2Cys | |
| NM_022132.4:c.6G>C | NP_071415.1:p.Trp2Cys | |
| XM_005248567.1:c.6G>C | XP_005248624.1:p.Trp2Cys | |
| XM_011543528.1:c.6G>C | XP_011541830.1:p.Trp2Cys | |
| XM_011543529.1:c.6G>C | XP_011541831.1:p.Trp2Cys | |
| NM_001363147.1:c.6G>C | NP_001350076.1:p.Trp2Cys | |
| XM_011543529.2:c.6G>C | XP_011541831.1:p.Trp2Cys | |
| XM_017009688.1:c.6G>C | XP_016865177.1:p.Trp2Cys | |
| XR_001742172.1:n.46G>C | ||
| NM_022132.5:c.6G>C MANE Select | NP_071415.1:p.Trp2Cys |