Linked Data
ClinVar Variation Id:
36086
ClinVar RCV Id:
RCV000029748
RCV000035220
RCV000277063
RCV000307637
RCV000311281
RCV000369297
RCV000393923
RCV000368323
RCV000726148
RCV001083354
dbSNP Id:
rs111671429
ExAC:
15:48888508 G / A
gnomAD v2:
15-48888508-G-A
gnomAD v3:
15-48596311-G-A
gnomAD v4:
15-48596311-G-A
COSMIC:
COSM4055336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48596311G>A , CM000677.2:g.48596311G>A | GRCh38 |
| NC_000015.9:g.48888508G>A , CM000677.1:g.48888508G>A | GRCh37 |
| NC_000015.8:g.46675800G>A | NCBI36 |
| NG_008805.2:g.54478C>T , LRG_778:g.54478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.510C>T | ENSP00000453958.2:p.Tyr170= | |
| ENST00000674301.2:c.510C>T | ENSP00000501333.2:p.Tyr170= | |
| ENST00000316623.10:c.510C>T MANE Select | ENSP00000325527.5:p.Tyr170= | |
| ENST00000316623.9:c.510C>T | ENSP00000325527.5:p.Tyr170= | |
| ENST00000537463.6:c.510C>T | ENSP00000440294.2:p.Tyr170= | |
| NM_000138.4:c.510C>T , LRG_778t1:c.510C>T | NP_000129.3:p.Tyr170= | |
| NM_000138.5:c.510C>T MANE Select | NP_000129.3:p.Tyr170= |