Linked Data
ClinVar Variation Id:
161825
ClinVar RCV Id:
RCV000149361
dbSNP Id:
rs193920958
ExAC:
11:128709045 T / A
gnomAD v2:
11-128709045-T-A
gnomAD v4:
11-128839150-T-A
COSMIC:
COSM1178698
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839150T>A , CM000673.2:g.128839150T>A | GRCh38 |
| NC_000011.9:g.128709045T>A , CM000673.1:g.128709045T>A | GRCh37 |
| NC_000011.8:g.128214255T>A | NCBI36 |
| NG_009379.1:g.33224A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.1094A>T MANE Select | ENSP00000376434.1:p.Asn365Ile | |
| ENST00000324036.7:c.1094A>T | ENSP00000316233.3:p.Asn365Ile | |
| ENST00000392664.2:c.1151A>T | ENSP00000376432.2:p.Asn384Ile | |
| ENST00000392665.6:c.1094A>T | ENSP00000376433.2:p.Asn365Ile | |
| ENST00000392666.5:c.1094A>T | ENSP00000376434.1:p.Asn365Ile | |
| ENST00000440599.6:c.1094A>T | ENSP00000406320.2:p.Asn365Ile | |
| NM_000220.4:c.1151A>T | NP_000211.1:p.Asn384Ile | |
| NM_153764.2:c.1094A>T | NP_722448.1:p.Asn365Ile | |
| NM_153765.2:c.1145A>T | NP_722449.3:p.Asn382Ile | |
| NM_153766.2:c.1094A>T | NP_722450.1:p.Asn365Ile | |
| NM_153767.3:c.1094A>T | NP_722451.1:p.Asn365Ile | |
| NM_000220.6:c.1151A>T | NP_000211.1:p.Asn384Ile | |
| NM_153764.3:c.1094A>T | NP_722448.1:p.Asn365Ile | |
| NM_153765.3:c.1145A>T | NP_722449.3:p.Asn382Ile | |
| NM_153766.3:c.1094A>T MANE Select | NP_722450.1:p.Asn365Ile | |
| NM_153767.4:c.1094A>T | NP_722451.1:p.Asn365Ile |