Linked Data
ClinVar Variation Id:
185082
ClinVar RCV Id:
RCV000164442
RCV000199249
RCV000489640
RCV000851299
RCV000763393
RCV003467298
RCV003162690
RCV004552888
dbSNP Id:
rs772295894
gnomAD v3:
17-31338739-C-A
gnomAD v4:
17-31338739-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338739C>A , CM000679.2:g.31338739C>A | GRCh38 |
| NC_000017.10:g.29665757C>A , CM000679.1:g.29665757C>A | GRCh37 |
| NC_000017.9:g.26689883C>A | NCBI36 |
| NG_009018.1:g.248763C>A , LRG_214:g.248763C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6837C>A | ENSP00000512431.1:p.Tyr2279Ter | |
| ENST00000684826.1:c.1419C>A | ENSP00000509994.1:p.Tyr473Ter | |
| ENST00000684998.1:n.2677C>A | ||
| ENST00000687027.1:c.1011C>A | ENSP00000508715.1:p.Tyr337Ter | |
| ENST00000687863.1:n.3500C>A | ||
| ENST00000691014.1:c.6885C>A | ENSP00000510595.1:p.Tyr2295Ter | |
| ENST00000693617.1:c.1419C>A | ENSP00000510031.1:p.Tyr473Ter | |
| ENST00000358273.9:c.6855C>A MANE Select | ENSP00000351015.4:p.Tyr2285Ter | |
| ENST00000356175.7:c.6792C>A | ENSP00000348498.3:p.Tyr2264Ter | |
| ENST00000358273.8:c.6855C>A | ENSP00000351015.4:p.Tyr2285Ter | |
| ENST00000456735.6:c.5790C>A | ENSP00000389907.2:p.Tyr1930Ter | |
| ENST00000471572.6:c.238C>A | ||
| ENST00000579081.5:c.6991C>A | ENSP00000462408.1:n.6991C>A | |
| ENST00000581790.5:c.64+859C>A | ||
| ENST00000584328.1:n.269C>A | ||
| NM_000267.3:c.6792C>A , LRG_214t1:c.6792C>A | NP_000258.1:p.Tyr2264Ter | |
| NM_001042492.2:c.6855C>A , LRG_214t2:c.6855C>A | NP_001035957.1:p.Tyr2285Ter | |
| XM_005257983.1:c.6855C>A | XP_005258040.1:p.Tyr2285Ter | |
| XM_005257984.1:c.6792C>A | XP_005258041.1:p.Tyr2264Ter | |
| XM_006721922.1:c.6885C>A | XP_006721985.1:p.Tyr2295Ter | |
| XM_006721923.2:c.6846C>A | XP_006721986.1:p.Tyr2282Ter | |
| XM_006721924.1:c.6885C>A | XP_006721987.1:p.Tyr2295Ter | |
| XM_006721925.1:c.6822C>A | XP_006721988.1:p.Tyr2274Ter | |
| XM_006721926.2:c.6885C>A | XP_006721989.1:p.Tyr2295Ter | |
| XM_006721927.1:c.6885C>A | XP_006721990.1:p.Tyr2295Ter | |
| XM_011524852.1:c.6882C>A | XP_011523154.1:p.Tyr2294Ter | |
| XM_011524853.1:c.6846C>A | XP_011523155.1:p.Tyr2282Ter | |
| XM_011524854.1:c.6846C>A | XP_011523156.1:p.Tyr2282Ter | |
| XM_011524855.1:c.6846C>A | XP_011523157.1:p.Tyr2282Ter | |
| XM_011524856.1:c.6846C>A | XP_011523158.1:p.Tyr2282Ter | |
| XM_011524857.1:c.6885C>A | XP_011523159.1:p.Tyr2295Ter | |
| NM_001042492.3:c.6855C>A MANE Select | NP_001035957.1:p.Tyr2285Ter |