Linked Data
ClinVar Variation Id:
230389
dbSNP Id:
rs876658541
gnomAD v4:
17-31338092-C-T
PubMed:
PMID:10712197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338092C>T , CM000679.2:g.31338092C>T | GRCh38 |
| NC_000017.10:g.29665110C>T , CM000679.1:g.29665110C>T | GRCh37 |
| NC_000017.9:g.26689236C>T | NCBI36 |
| NG_009018.1:g.248116C>T , LRG_214:g.248116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6754C>T | ENSP00000512431.1:p.Arg2252Ter | |
| ENST00000684826.1:c.1336C>T | ENSP00000509994.1:p.Arg446Ter | |
| ENST00000684998.1:n.2030C>T | ||
| ENST00000687027.1:c.928C>T | ENSP00000508715.1:p.Arg310Ter | |
| ENST00000687863.1:n.3417C>T | ||
| ENST00000691014.1:c.6802C>T | ENSP00000510595.1:p.Arg2268Ter | |
| ENST00000693617.1:c.1336C>T | ENSP00000510031.1:p.Arg446Ter | |
| ENST00000358273.9:c.6772C>T MANE Select | ENSP00000351015.4:p.Arg2258Ter | |
| ENST00000356175.7:c.6709C>T | ENSP00000348498.3:p.Arg2237Ter | |
| ENST00000358273.8:c.6772C>T | ENSP00000351015.4:p.Arg2258Ter | |
| ENST00000456735.6:c.5707C>T | ENSP00000389907.2:p.Arg1903Ter | |
| ENST00000471572.6:c.155C>T | ||
| ENST00000579081.5:c.6908C>T | ENSP00000462408.1:n.6908C>T | |
| ENST00000581790.5:c.64+212C>T | ||
| ENST00000584328.1:n.186C>T | ||
| NM_000267.3:c.6709C>T , LRG_214t1:c.6709C>T | NP_000258.1:p.Arg2237Ter | |
| NM_001042492.2:c.6772C>T , LRG_214t2:c.6772C>T | NP_001035957.1:p.Arg2258Ter | |
| XM_005257983.1:c.6772C>T | XP_005258040.1:p.Arg2258Ter | |
| XM_005257984.1:c.6709C>T | XP_005258041.1:p.Arg2237Ter | |
| XM_006721922.1:c.6802C>T | XP_006721985.1:p.Arg2268Ter | |
| XM_006721923.2:c.6763C>T | XP_006721986.1:p.Arg2255Ter | |
| XM_006721924.1:c.6802C>T | XP_006721987.1:p.Arg2268Ter | |
| XM_006721925.1:c.6739C>T | XP_006721988.1:p.Arg2247Ter | |
| XM_006721926.2:c.6802C>T | XP_006721989.1:p.Arg2268Ter | |
| XM_006721927.1:c.6802C>T | XP_006721990.1:p.Arg2268Ter | |
| XM_011524852.1:c.6799C>T | XP_011523154.1:p.Arg2267Ter | |
| XM_011524853.1:c.6763C>T | XP_011523155.1:p.Arg2255Ter | |
| XM_011524854.1:c.6763C>T | XP_011523156.1:p.Arg2255Ter | |
| XM_011524855.1:c.6763C>T | XP_011523157.1:p.Arg2255Ter | |
| XM_011524856.1:c.6763C>T | XP_011523158.1:p.Arg2255Ter | |
| XM_011524857.1:c.6802C>T | XP_011523159.1:p.Arg2268Ter | |
| NM_001042492.3:c.6772C>T MANE Select | NP_001035957.1:p.Arg2258Ter |