Linked Data
ClinVar Variation Id:
306611
dbSNP Id:
rs117016551
ExAC:
12:1005486 C / T
gnomAD v2:
12-1005486-C-T
gnomAD v3:
12-896320-C-T
gnomAD v4:
12-896320-C-T
COSMIC:
COSM98859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.896320C>T , CM000674.2:g.896320C>T | GRCh38 |
| NC_000012.11:g.1005486C>T , CM000674.1:g.1005486C>T | GRCh37 |
| NC_000012.10:g.875747C>T | NCBI36 |
| NG_007984.2:g.148262C>T | |
| NG_007984.3:g.148262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5833C>T MANE Select | ENSP00000313059.6:p.Arg1945Cys | |
| ENST00000340908.9:c.6589C>T MANE Plus Clinical | ENSP00000341292.5:p.Arg2197Cys | |
| ENST00000675631.1:c.4612C>T | ENSP00000502415.1:p.Arg1538Cys | |
| ENST00000676347.1:c.3280C>T | ENSP00000501875.1:p.Arg1094Cys | |
| ENST00000315939.10:c.5833C>T | ENSP00000313059.6:p.Arg1945Cys | |
| ENST00000340908.8:c.6589C>T | ENSP00000341292.5:p.Arg2197Cys | |
| ENST00000530271.6:c.7072C>T | ENSP00000433548.3:p.Arg2358Cys | |
| ENST00000535572.5:c.5089C>T | ENSP00000441972.1:p.Arg1697Cys | |
| ENST00000537687.5:c.6613C>T | ENSP00000444465.1:p.Arg2205Cys | |
| NM_001184985.1:c.6613C>T | NP_001171914.1:p.Arg2205Cys | |
| NM_014823.2:c.5089C>T | NP_055638.2:p.Arg1697Cys | |
| NM_018979.3:c.5833C>T | NP_061852.3:p.Arg1945Cys | |
| NM_213655.4:c.6589C>T | NP_998820.3:p.Arg2197Cys | |
| XM_006719003.1:c.5830C>T | XP_006719066.1:p.Arg1944Cys | |
| XM_011520997.1:c.7072C>T | XP_011519299.1:p.Arg2358Cys | |
| XM_011520998.1:c.7069C>T | XP_011519300.1:p.Arg2357Cys | |
| XM_011520999.1:c.7069C>T | XP_011519301.1:p.Arg2357Cys | |
| XM_011521000.1:c.7072C>T | XP_011519302.1:p.Arg2358Cys | |
| XM_011521001.1:c.6793C>T | XP_011519303.1:p.Arg2265Cys | |
| XM_011521002.1:c.6610C>T | XP_011519304.1:p.Arg2204Cys | |
| XM_011521003.1:c.6334C>T | XP_011519305.1:p.Arg2112Cys | |
| XM_011521004.1:c.6331C>T | XP_011519306.1:p.Arg2111Cys | |
| XM_011521005.1:c.5851C>T | XP_011519307.1:p.Arg1951Cys | |
| XM_011521006.1:c.5749C>T | XP_011519308.1:p.Arg1917Cys | |
| XM_011521007.1:c.5746C>T | XP_011519309.1:p.Arg1916Cys | |
| XM_011521008.1:c.5011C>T | XP_011519310.1:p.Arg1671Cys | |
| XM_011521009.1:c.5008C>T | XP_011519311.1:p.Arg1670Cys | |
| XM_006719003.2:c.5830C>T | XP_006719066.1:p.Arg1944Cys | |
| XM_011520997.3:c.7072C>T | XP_011519299.1:p.Arg2358Cys | |
| XM_011520998.2:c.7069C>T | XP_011519300.1:p.Arg2357Cys | |
| XM_011520999.2:c.7069C>T | XP_011519301.1:p.Arg2357Cys | |
| XM_011521000.2:c.7072C>T | XP_011519302.1:p.Arg2358Cys | |
| XM_011521001.2:c.6793C>T | XP_011519303.1:p.Arg2265Cys | |
| XM_011521002.2:c.6610C>T | XP_011519304.1:p.Arg2204Cys | |
| XM_011521003.2:c.6334C>T | XP_011519305.1:p.Arg2112Cys | |
| XM_011521004.2:c.6331C>T | XP_011519306.1:p.Arg2111Cys | |
| XM_011521005.2:c.5851C>T | XP_011519307.1:p.Arg1951Cys | |
| XM_011521006.2:c.5749C>T | XP_011519308.1:p.Arg1917Cys | |
| XM_011521007.2:c.5746C>T | XP_011519309.1:p.Arg1916Cys | |
| XM_011521008.2:c.5011C>T | XP_011519310.1:p.Arg1671Cys | |
| XM_011521009.2:c.5008C>T | XP_011519311.1:p.Arg1670Cys | |
| XM_017019834.1:c.5371C>T | XP_016875323.1:p.Arg1791Cys | |
| XM_017019835.1:c.5290C>T | XP_016875324.1:p.Arg1764Cys | |
| XM_017019836.1:c.5287C>T | XP_016875325.1:p.Arg1763Cys | |
| XM_017019837.1:c.5095C>T | XP_016875326.1:p.Arg1699Cys | |
| XM_017019838.1:c.5092C>T | XP_016875327.1:p.Arg1698Cys | |
| XM_017019839.1:c.5011C>T | XP_016875328.1:p.Arg1671Cys | |
| NM_018979.4:c.5833C>T MANE Select | NP_061852.3:p.Arg1945Cys | |
| NM_014823.3:c.5089C>T | NP_055638.2:p.Arg1697Cys | |
| NM_001184985.2:c.6613C>T | NP_001171914.1:p.Arg2205Cys | |
| NM_213655.5:c.6589C>T MANE Plus Clinical | NP_998820.3:p.Arg2197Cys |