Linked Data
ClinVar Variation Id:
306612
dbSNP Id:
rs201766777
ExAC:
12:1005522 C / T
gnomAD v2:
12-1005522-C-T
gnomAD v3:
12-896356-C-T
gnomAD v4:
12-896356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.896356C>T , CM000674.2:g.896356C>T | GRCh38 |
| NC_000012.11:g.1005522C>T , CM000674.1:g.1005522C>T | GRCh37 |
| NC_000012.10:g.875783C>T | NCBI36 |
| NG_007984.2:g.148298C>T | |
| NG_007984.3:g.148298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5869C>T MANE Select | ENSP00000313059.6:p.Arg1957Cys | |
| ENST00000340908.9:c.6625C>T MANE Plus Clinical | ENSP00000341292.5:p.Arg2209Cys | |
| ENST00000675631.1:c.4648C>T | ENSP00000502415.1:p.Arg1550Cys | |
| ENST00000676347.1:c.3316C>T | ENSP00000501875.1:p.Arg1106Cys | |
| ENST00000315939.10:c.5869C>T | ENSP00000313059.6:p.Arg1957Cys | |
| ENST00000340908.8:c.6625C>T | ENSP00000341292.5:p.Arg2209Cys | |
| ENST00000530271.6:c.7108C>T | ENSP00000433548.3:p.Arg2370Cys | |
| ENST00000535572.5:c.5125C>T | ENSP00000441972.1:p.Arg1709Cys | |
| ENST00000537687.5:c.6649C>T | ENSP00000444465.1:p.Arg2217Cys | |
| NM_001184985.1:c.6649C>T | NP_001171914.1:p.Arg2217Cys | |
| NM_014823.2:c.5125C>T | NP_055638.2:p.Arg1709Cys | |
| NM_018979.3:c.5869C>T | NP_061852.3:p.Arg1957Cys | |
| NM_213655.4:c.6625C>T | NP_998820.3:p.Arg2209Cys | |
| XM_006719003.1:c.5866C>T | XP_006719066.1:p.Arg1956Cys | |
| XM_011520997.1:c.7108C>T | XP_011519299.1:p.Arg2370Cys | |
| XM_011520998.1:c.7105C>T | XP_011519300.1:p.Arg2369Cys | |
| XM_011520999.1:c.7105C>T | XP_011519301.1:p.Arg2369Cys | |
| XM_011521000.1:c.7108C>T | XP_011519302.1:p.Arg2370Cys | |
| XM_011521001.1:c.6829C>T | XP_011519303.1:p.Arg2277Cys | |
| XM_011521002.1:c.6646C>T | XP_011519304.1:p.Arg2216Cys | |
| XM_011521003.1:c.6370C>T | XP_011519305.1:p.Arg2124Cys | |
| XM_011521004.1:c.6367C>T | XP_011519306.1:p.Arg2123Cys | |
| XM_011521005.1:c.5887C>T | XP_011519307.1:p.Arg1963Cys | |
| XM_011521006.1:c.5785C>T | XP_011519308.1:p.Arg1929Cys | |
| XM_011521007.1:c.5782C>T | XP_011519309.1:p.Arg1928Cys | |
| XM_011521008.1:c.5047C>T | XP_011519310.1:p.Arg1683Cys | |
| XM_011521009.1:c.5044C>T | XP_011519311.1:p.Arg1682Cys | |
| XM_006719003.2:c.5866C>T | XP_006719066.1:p.Arg1956Cys | |
| XM_011520997.3:c.7108C>T | XP_011519299.1:p.Arg2370Cys | |
| XM_011520998.2:c.7105C>T | XP_011519300.1:p.Arg2369Cys | |
| XM_011520999.2:c.7105C>T | XP_011519301.1:p.Arg2369Cys | |
| XM_011521000.2:c.7108C>T | XP_011519302.1:p.Arg2370Cys | |
| XM_011521001.2:c.6829C>T | XP_011519303.1:p.Arg2277Cys | |
| XM_011521002.2:c.6646C>T | XP_011519304.1:p.Arg2216Cys | |
| XM_011521003.2:c.6370C>T | XP_011519305.1:p.Arg2124Cys | |
| XM_011521004.2:c.6367C>T | XP_011519306.1:p.Arg2123Cys | |
| XM_011521005.2:c.5887C>T | XP_011519307.1:p.Arg1963Cys | |
| XM_011521006.2:c.5785C>T | XP_011519308.1:p.Arg1929Cys | |
| XM_011521007.2:c.5782C>T | XP_011519309.1:p.Arg1928Cys | |
| XM_011521008.2:c.5047C>T | XP_011519310.1:p.Arg1683Cys | |
| XM_011521009.2:c.5044C>T | XP_011519311.1:p.Arg1682Cys | |
| XM_017019834.1:c.5407C>T | XP_016875323.1:p.Arg1803Cys | |
| XM_017019835.1:c.5326C>T | XP_016875324.1:p.Arg1776Cys | |
| XM_017019836.1:c.5323C>T | XP_016875325.1:p.Arg1775Cys | |
| XM_017019837.1:c.5131C>T | XP_016875326.1:p.Arg1711Cys | |
| XM_017019838.1:c.5128C>T | XP_016875327.1:p.Arg1710Cys | |
| XM_017019839.1:c.5047C>T | XP_016875328.1:p.Arg1683Cys | |
| NM_018979.4:c.5869C>T MANE Select | NP_061852.3:p.Arg1957Cys | |
| NM_014823.3:c.5125C>T | NP_055638.2:p.Arg1709Cys | |
| NM_001184985.2:c.6649C>T | NP_001171914.1:p.Arg2217Cys | |
| NM_213655.5:c.6625C>T MANE Plus Clinical | NP_998820.3:p.Arg2209Cys |