Linked Data
ClinVar Variation Id:
142457
ClinVar RCV Id:
RCV000131588
RCV000210106
RCV000211929
RCV000234415
RCV000590651
RCV002228664
RCV003998109
dbSNP Id:
rs367905430
ExAC:
5:112177970 G / T
gnomAD v2:
5-112177970-G-T
gnomAD v3:
5-112842273-G-T
gnomAD v4:
5-112842273-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842273G>T , CM000667.2:g.112842273G>T | GRCh38 |
| NC_000005.9:g.112177970G>T , CM000667.1:g.112177970G>T | GRCh37 |
| NC_000005.8:g.112205869G>T | NCBI36 |
| NG_008481.4:g.154753G>T , LRG_130:g.154753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6733G>T | ENSP00000473355.2:p.Gly2245Cys | |
| ENST00000505350.2:c.*6685G>T | ENSP00000481752.1:n.*6685G>T | |
| ENST00000507379.6:c.6625G>T | ENSP00000423224.2:p.Gly2209Cys | |
| ENST00000509732.6:c.6679G>T | ENSP00000426541.2:p.Gly2227Cys | |
| ENST00000512211.7:c.6679G>T | ENSP00000423828.3:p.Gly2227Cys | |
| ENST00000257430.9:c.6679G>T MANE Select | ENSP00000257430.4:p.Gly2227Cys | |
| ENST00000257430.8:c.6679G>T | ENSP00000257430.4:p.Gly2227Cys | |
| ENST00000508376.6:c.6679G>T | ENSP00000427089.2:p.Gly2227Cys | |
| ENST00000508624.5:c.*6001G>T | ENSP00000424265.1:n.*6001G>T | |
| ENST00000520401.1:c.230+13301G>T | ||
| NM_000038.5:c.6679G>T | NP_000029.2:p.Gly2227Cys | |
| NM_001127510.2:c.6679G>T | NP_001120982.1:p.Gly2227Cys | |
| NM_001127511.2:c.6625G>T | NP_001120983.2:p.Gly2209Cys | |
| NM_001354895.1:c.6679G>T | NP_001341824.1:p.Gly2227Cys | |
| NM_001354896.1:c.6733G>T | NP_001341825.1:p.Gly2245Cys | |
| NM_001354897.1:c.6709G>T | NP_001341826.1:p.Gly2237Cys | |
| NM_001354898.1:c.6604G>T | NP_001341827.1:p.Gly2202Cys | |
| NM_001354899.1:c.6595G>T | NP_001341828.1:p.Gly2199Cys | |
| NM_001354900.1:c.6556G>T | NP_001341829.1:p.Gly2186Cys | |
| NM_001354901.1:c.6502G>T | NP_001341830.1:p.Gly2168Cys | |
| NM_001354902.1:c.6406G>T | NP_001341831.1:p.Gly2136Cys | |
| NM_001354903.1:c.6376G>T | NP_001341832.1:p.Gly2126Cys | |
| NM_001354904.1:c.6301G>T | NP_001341833.1:p.Gly2101Cys | |
| NM_001354905.1:c.6199G>T | NP_001341834.1:p.Gly2067Cys | |
| NM_001354906.1:c.5830G>T | NP_001341835.1:p.Gly1944Cys | |
| NM_000038.6:c.6679G>T MANE Select | NP_000029.2:p.Gly2227Cys | |
| NM_001127510.3:c.6679G>T | NP_001120982.1:p.Gly2227Cys | |
| NM_001127511.3:c.6625G>T | NP_001120983.2:p.Gly2209Cys | |
| NM_001354895.2:c.6679G>T | NP_001341824.1:p.Gly2227Cys | |
| NM_001354896.2:c.6733G>T | NP_001341825.1:p.Gly2245Cys | |
| NM_001354897.2:c.6709G>T | NP_001341826.1:p.Gly2237Cys | |
| NM_001354898.2:c.6604G>T | NP_001341827.1:p.Gly2202Cys | |
| NM_001354899.2:c.6595G>T | NP_001341828.1:p.Gly2199Cys | |
| NM_001354900.2:c.6556G>T | NP_001341829.1:p.Gly2186Cys | |
| NM_001354901.2:c.6502G>T | NP_001341830.1:p.Gly2168Cys | |
| NM_001354902.2:c.6406G>T | NP_001341831.1:p.Gly2136Cys | |
| NM_001354903.2:c.6376G>T | NP_001341832.1:p.Gly2126Cys | |
| NM_001354904.2:c.6301G>T | NP_001341833.1:p.Gly2101Cys | |
| NM_001354905.2:c.6199G>T | NP_001341834.1:p.Gly2067Cys | |
| NM_001354906.2:c.5830G>T | NP_001341835.1:p.Gly1944Cys |