Linked Data
ClinVar Variation Id:
1632403
ClinVar RCV Id:
RCV002118991
dbSNP Id:
rs2151464603
MyVariant Identifiers:
chr17:g.29587423T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31260405T>C , CM000679.2:g.31260405T>C | GRCh38 |
| NC_000017.10:g.29587423T>C , CM000679.1:g.29587423T>C | GRCh37 |
| NC_000017.9:g.26611549T>C | NCBI36 |
| NG_009018.1:g.170429T>C , LRG_214:g.170429T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.255T>C | ENSP00000492721.2:p.Ser85= | |
| ENST00000696138.1:c.4449T>C | ENSP00000512431.1:p.Ser1483= | |
| ENST00000696140.1:n.573T>C | ||
| ENST00000696141.1:c.458T>C | ||
| ENST00000687863.1:n.1112T>C | ||
| ENST00000691014.1:c.4497T>C | ENSP00000510595.1:p.Ser1499= | |
| ENST00000691649.1:n.1678T>C | ||
| ENST00000358273.9:c.4467T>C MANE Select | ENSP00000351015.4:p.Ser1489= | |
| ENST00000356175.7:c.4404T>C | ENSP00000348498.3:p.Ser1468= | |
| ENST00000358273.8:c.4467T>C | ENSP00000351015.4:p.Ser1489= | |
| ENST00000456735.6:c.3402T>C | ENSP00000389907.2:p.Ser1134= | |
| ENST00000466819.5:c.983T>C | ||
| ENST00000479614.1:c.920T>C | ||
| ENST00000493220.5:n.2940T>C | ||
| ENST00000579081.5:c.4506T>C | ENSP00000462408.1:p.Ser1502= | |
| NM_000267.3:c.4404T>C , LRG_214t1:c.4404T>C | NP_000258.1:p.Ser1468= | |
| NM_001042492.2:c.4467T>C , LRG_214t2:c.4467T>C | NP_001035957.1:p.Ser1489= | |
| XM_005257983.1:c.4467T>C | XP_005258040.1:p.Ser1489= | |
| XM_005257984.1:c.4404T>C | XP_005258041.1:p.Ser1468= | |
| XM_006721922.1:c.4497T>C | XP_006721985.1:p.Ser1499= | |
| XM_006721923.2:c.4458T>C | XP_006721986.1:p.Ser1486= | |
| XM_006721924.1:c.4497T>C | XP_006721987.1:p.Ser1499= | |
| XM_006721925.1:c.4434T>C | XP_006721988.1:p.Ser1478= | |
| XM_006721926.2:c.4497T>C | XP_006721989.1:p.Ser1499= | |
| XM_006721927.1:c.4497T>C | XP_006721990.1:p.Ser1499= | |
| XM_006721928.2:c.4497T>C | XP_006721991.1:p.Ser1499= | |
| XM_011524852.1:c.4494T>C | XP_011523154.1:p.Ser1498= | |
| XM_011524853.1:c.4458T>C | XP_011523155.1:p.Ser1486= | |
| XM_011524854.1:c.4458T>C | XP_011523156.1:p.Ser1486= | |
| XM_011524855.1:c.4458T>C | XP_011523157.1:p.Ser1486= | |
| XM_011524856.1:c.4458T>C | XP_011523158.1:p.Ser1486= | |
| XM_011524857.1:c.4497T>C | XP_011523159.1:p.Ser1499= | |
| NM_001042492.3:c.4467T>C MANE Select | NP_001035957.1:p.Ser1489= |