Linked Data
ClinVar Variation Id:
41679
ClinVar RCV Id:
RCV000034591
RCV000130727
RCV000501885
RCV000515212
RCV001079427
RCV002415459
RCV004549403
dbSNP Id:
rs201824349
ExAC:
17:29685632 A / T
gnomAD v2:
17-29685632-A-T
gnomAD v3:
17-31358614-A-T
gnomAD v4:
17-31358614-A-T
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31358614A>T , CM000679.2:g.31358614A>T | GRCh38 |
| NC_000017.10:g.29685632A>T , CM000679.1:g.29685632A>T | GRCh37 |
| NC_000017.9:g.26709758A>T | NCBI36 |
| NG_009018.1:g.268638A>T , LRG_214:g.268638A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.8087A>T | ENSP00000512431.1:p.Tyr2696Phe | |
| ENST00000684826.1:c.2669A>T | ENSP00000509994.1:p.Tyr890Phe | |
| ENST00000687027.1:c.2261A>T | ENSP00000508715.1:p.Tyr754Phe | |
| ENST00000687863.1:n.4750A>T | ||
| ENST00000689464.1:c.1155A>T | ||
| ENST00000691014.1:c.8135A>T | ENSP00000510595.1:p.Tyr2712Phe | |
| ENST00000693617.1:c.2669A>T | ENSP00000510031.1:p.Tyr890Phe | |
| ENST00000358273.9:c.8105A>T MANE Select | ENSP00000351015.4:p.Tyr2702Phe | |
| ENST00000356175.7:c.8042A>T | ENSP00000348498.3:p.Tyr2681Phe | |
| ENST00000358273.8:c.8105A>T | ENSP00000351015.4:p.Tyr2702Phe | |
| ENST00000456735.6:c.7040A>T | ENSP00000389907.2:p.Tyr2347Phe | |
| ENST00000468273.1:c.67A>T | ||
| ENST00000471572.6:c.1488A>T | ||
| ENST00000577967.1:n.2811A>T | ||
| ENST00000579081.5:c.8241A>T | ENSP00000462408.1:n.8241A>T | |
| ENST00000581790.5:c.1090A>T | ||
| NM_000267.3:c.8042A>T , LRG_214t1:c.8042A>T | NP_000258.1:p.Tyr2681Phe | |
| NM_001042492.2:c.8105A>T , LRG_214t2:c.8105A>T | NP_001035957.1:p.Tyr2702Phe | |
| XM_005257983.1:c.8105A>T | XP_005258040.1:p.Tyr2702Phe | |
| XM_005257984.1:c.8042A>T | XP_005258041.1:p.Tyr2681Phe | |
| XM_006721922.1:c.8135A>T | XP_006721985.1:p.Tyr2712Phe | |
| XM_006721923.2:c.8096A>T | XP_006721986.1:p.Tyr2699Phe | |
| XM_006721924.1:c.8135A>T | XP_006721987.1:p.Tyr2712Phe | |
| XM_006721925.1:c.8072A>T | XP_006721988.1:p.Tyr2691Phe | |
| XM_006721926.2:c.8135A>T | XP_006721989.1:p.Tyr2712Phe | |
| XM_006721927.1:c.8135A>T | XP_006721990.1:p.Tyr2712Phe | |
| XM_011524852.1:c.8132A>T | XP_011523154.1:p.Tyr2711Phe | |
| XM_011524853.1:c.8096A>T | XP_011523155.1:p.Tyr2699Phe | |
| XM_011524854.1:c.8096A>T | XP_011523156.1:p.Tyr2699Phe | |
| XM_011524855.1:c.8096A>T | XP_011523157.1:p.Tyr2699Phe | |
| XM_011524856.1:c.8096A>T | XP_011523158.1:p.Tyr2699Phe | |
| XM_011524857.1:c.8012A>T | XP_011523159.1:p.Tyr2671Phe | |
| NM_001042492.3:c.8105A>T MANE Select | NP_001035957.1:p.Tyr2702Phe |