Linked Data
ClinVar Variation Id:
343
ClinVar RCV Id:
RCV000000371
RCV000418287
RCV000492774
RCV000762995
RCV001009602
RCV003460398
RCV004547450
dbSNP Id:
rs137854552
gnomAD v4:
17-31334927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31334927C>T , CM000679.2:g.31334927C>T | GRCh38 |
| NC_000017.10:g.29661945C>T , CM000679.1:g.29661945C>T | GRCh37 |
| NC_000017.9:g.26686071C>T | NCBI36 |
| NG_009018.1:g.244951C>T , LRG_214:g.244951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2090C>T | ENSP00000492721.2:n.2090C>T | |
| ENST00000696138.1:c.5884C>T | ENSP00000512431.1:p.Arg1962Ter | |
| ENST00000684826.1:c.466C>T | ENSP00000509994.1:p.Arg156Ter | |
| ENST00000687027.1:c.58C>T | ENSP00000508715.1:p.Arg20Ter | |
| ENST00000687863.1:n.2547C>T | ||
| ENST00000691014.1:c.5932C>T | ENSP00000510595.1:p.Arg1978Ter | |
| ENST00000693617.1:c.466C>T | ENSP00000510031.1:p.Arg156Ter | |
| ENST00000358273.9:c.5902C>T MANE Select | ENSP00000351015.4:p.Arg1968Ter | |
| ENST00000356175.7:c.5839C>T | ENSP00000348498.3:p.Arg1947Ter | |
| ENST00000358273.8:c.5902C>T | ENSP00000351015.4:p.Arg1968Ter | |
| ENST00000456735.6:c.4837C>T | ENSP00000389907.2:p.Arg1613Ter | |
| ENST00000479536.2:c.327C>T | ||
| ENST00000579081.5:c.6038C>T | ENSP00000462408.1:n.6038C>T | |
| ENST00000581113.6:n.1219C>T | ||
| NM_000267.3:c.5839C>T , LRG_214t1:c.5839C>T | NP_000258.1:p.Arg1947Ter | |
| NM_001042492.2:c.5902C>T , LRG_214t2:c.5902C>T | NP_001035957.1:p.Arg1968Ter | |
| XM_005257983.1:c.5902C>T | XP_005258040.1:p.Arg1968Ter | |
| XM_005257984.1:c.5839C>T | XP_005258041.1:p.Arg1947Ter | |
| XM_006721922.1:c.5932C>T | XP_006721985.1:p.Arg1978Ter | |
| XM_006721923.2:c.5893C>T | XP_006721986.1:p.Arg1965Ter | |
| XM_006721924.1:c.5932C>T | XP_006721987.1:p.Arg1978Ter | |
| XM_006721925.1:c.5869C>T | XP_006721988.1:p.Arg1957Ter | |
| XM_006721926.2:c.5932C>T | XP_006721989.1:p.Arg1978Ter | |
| XM_006721927.1:c.5932C>T | XP_006721990.1:p.Arg1978Ter | |
| XM_011524852.1:c.5929C>T | XP_011523154.1:p.Arg1977Ter | |
| XM_011524853.1:c.5893C>T | XP_011523155.1:p.Arg1965Ter | |
| XM_011524854.1:c.5893C>T | XP_011523156.1:p.Arg1965Ter | |
| XM_011524855.1:c.5893C>T | XP_011523157.1:p.Arg1965Ter | |
| XM_011524856.1:c.5893C>T | XP_011523158.1:p.Arg1965Ter | |
| XM_011524857.1:c.5932C>T | XP_011523159.1:p.Arg1978Ter | |
| NM_001042492.3:c.5902C>T MANE Select | NP_001035957.1:p.Arg1968Ter |