Linked Data
ClinVar Variation Id:
291786
dbSNP Id:
rs12711521
ExAC:
1:11090916 C / A
gnomAD v2:
1-11090916-C-A
gnomAD v3:
1-11030859-C-A
gnomAD v4:
1-11030859-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11030859C>A , CM000663.2:g.11030859C>A | GRCh38 |
| NC_000001.10:g.11090916C>A , CM000663.1:g.11090916C>A | GRCh37 |
| NC_000001.9:g.11013503C>A | NCBI36 |
| NG_007289.1:g.21370G>T | |
| NG_007289.2:g.21370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699958.1:c.1006G>T | ENSP00000514717.1:p.Asp336Tyr | |
| ENST00000700088.1:c.1111G>T | ENSP00000514787.1:p.Asp371Tyr | |
| ENST00000700089.1:c.1108G>T | ENSP00000514788.1:n.1108G>T | |
| ENST00000700090.1:c.990G>T | ENSP00000514789.1:n.990G>T | |
| ENST00000700091.1:c.913G>T | ENSP00000514790.1:p.Asp305Tyr | |
| ENST00000700092.1:c.1101-11G>T | ENSP00000514791.1:n.1101-11G>T | |
| ENST00000700093.1:c.1087G>T | ENSP00000514792.1:p.Asp363Tyr | |
| ENST00000700094.1:c.1119G>T | ENSP00000514793.1:n.1119G>T | |
| ENST00000700095.1:c.1111G>T | ENSP00000514794.1:p.Asp371Tyr | |
| ENST00000700096.1:c.914G>T | ENSP00000514795.1:n.914G>T | |
| ENST00000700097.1:c.1111G>T | ENSP00000514796.1:p.Asp371Tyr | |
| ENST00000700098.1:n.633G>T | ||
| ENST00000400897.8:c.1111G>T MANE Select | ENSP00000383690.3:p.Asp371Tyr | |
| ENST00000400897.7:c.1111G>T | ENSP00000383690.3:p.Asp371Tyr | |
| NM_006610.3:c.1111G>T | NP_006601.2:p.Asp371Tyr | |
| XR_001736931.1:n.1064G>T | ||
| XR_002958895.1:n.1022G>T | ||
| NM_006610.4:c.1111G>T MANE Select | NP_006601.2:p.Asp371Tyr |