Linked Data
ClinVar Variation Id:
161695
ClinVar RCV Id:
RCV000149231
dbSNP Id:
rs193921029
gnomAD v3:
6-82191142-T-A
gnomAD v4:
6-82191142-T-A
COSMIC:
COSM1178994
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.82191142T>A , CM000668.2:g.82191142T>A | GRCh38 |
| NC_000006.11:g.82900859T>A , CM000668.1:g.82900859T>A | GRCh37 |
| NC_000006.10:g.82957578T>A | NCBI36 |
| NG_047139.1:g.61613A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306270.12:c.3506A>T MANE Select | ENSP00000305721.7:p.Asn1169Ile | |
| ENST00000306270.11:c.3506A>T | ENSP00000305721.7:p.Asn1169Ile | |
| ENST00000445419.6:n.1921A>T | ||
| ENST00000471036.1:c.143A>T | ENSP00000424634.1:p.Asn48Ile | |
| ENST00000503400.5:c.*2817A>T | ENSP00000422136.1:n.*2817A>T | |
| ENST00000503631.5:c.2903A>T | ENSP00000422762.1:p.Asn968Ile | |
| ENST00000505222.5:n.3552A>T | ||
| ENST00000510291.5:c.3461A>T | ENSP00000426405.1:p.Asn1154Ile | |
| ENST00000610980.4:c.2903A>T | ENSP00000478891.1:p.Asn968Ile | |
| NM_001300906.1:c.3461A>T | NP_001287835.1:p.Asn1154Ile | |
| NM_015525.3:c.3506A>T | NP_056340.2:p.Asn1169Ile | |
| XM_006715453.1:c.3506A>T | XP_006715516.1:p.Asn1169Ile | |
| XM_006715454.1:c.3461A>T | XP_006715517.1:p.Asn1154Ile | |
| XM_006715453.3:c.3506A>T | XP_006715516.1:p.Asn1169Ile | |
| XM_006715454.3:c.3461A>T | XP_006715517.1:p.Asn1154Ile | |
| NM_015525.4:c.3506A>T MANE Select | NP_056340.2:p.Asn1169Ile | |
| NM_001300906.2:c.3461A>T | NP_001287835.1:p.Asn1154Ile |