Linked Data
ClinVar Variation Id:
1609066
ClinVar RCV Id:
RCV002155158
dbSNP Id:
rs1333226474
MyVariant Identifiers:
chr17:g.29665808G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338790G>A , CM000679.2:g.31338790G>A | GRCh38 |
| NC_000017.10:g.29665808G>A , CM000679.1:g.29665808G>A | GRCh37 |
| NC_000017.9:g.26689934G>A | NCBI36 |
| NG_009018.1:g.248814G>A , LRG_214:g.248814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6888G>A | ENSP00000512431.1:p.Gln2296= | |
| ENST00000684826.1:c.1470G>A | ENSP00000509994.1:p.Gln490= | |
| ENST00000684998.1:n.2728G>A | ||
| ENST00000687027.1:c.1062G>A | ENSP00000508715.1:p.Gln354= | |
| ENST00000687863.1:n.3551G>A | ||
| ENST00000691014.1:c.6936G>A | ENSP00000510595.1:p.Gln2312= | |
| ENST00000693617.1:c.1470G>A | ENSP00000510031.1:p.Gln490= | |
| ENST00000358273.9:c.6906G>A MANE Select | ENSP00000351015.4:p.Gln2302= | |
| ENST00000356175.7:c.6843G>A | ENSP00000348498.3:p.Gln2281= | |
| ENST00000358273.8:c.6906G>A | ENSP00000351015.4:p.Gln2302= | |
| ENST00000456735.6:c.5841G>A | ENSP00000389907.2:p.Gln1947= | |
| ENST00000471572.6:c.289G>A | ||
| ENST00000579081.5:c.7042G>A | ENSP00000462408.1:n.7042G>A | |
| ENST00000581790.5:c.64+910G>A | ||
| ENST00000584328.1:n.320G>A | ||
| NM_000267.3:c.6843G>A , LRG_214t1:c.6843G>A | NP_000258.1:p.Gln2281= | |
| NM_001042492.2:c.6906G>A , LRG_214t2:c.6906G>A | NP_001035957.1:p.Gln2302= | |
| XM_005257983.1:c.6906G>A | XP_005258040.1:p.Gln2302= | |
| XM_005257984.1:c.6843G>A | XP_005258041.1:p.Gln2281= | |
| XM_006721922.1:c.6936G>A | XP_006721985.1:p.Gln2312= | |
| XM_006721923.2:c.6897G>A | XP_006721986.1:p.Gln2299= | |
| XM_006721924.1:c.6936G>A | XP_006721987.1:p.Gln2312= | |
| XM_006721925.1:c.6873G>A | XP_006721988.1:p.Gln2291= | |
| XM_006721926.2:c.6936G>A | XP_006721989.1:p.Gln2312= | |
| XM_006721927.1:c.6936G>A | XP_006721990.1:p.Gln2312= | |
| XM_011524852.1:c.6933G>A | XP_011523154.1:p.Gln2311= | |
| XM_011524853.1:c.6897G>A | XP_011523155.1:p.Gln2299= | |
| XM_011524854.1:c.6897G>A | XP_011523156.1:p.Gln2299= | |
| XM_011524855.1:c.6897G>A | XP_011523157.1:p.Gln2299= | |
| XM_011524856.1:c.6897G>A | XP_011523158.1:p.Gln2299= | |
| XM_011524857.1:c.6936G>A | XP_011523159.1:p.Gln2312= | |
| NM_001042492.3:c.6906G>A MANE Select | NP_001035957.1:p.Gln2302= |