Linked Data
ClinVar Variation Id:
2970267
ClinVar RCV Id:
RCV003829921
dbSNP Id:
rs778612057
ExAC:
9:133748347 C / T
gnomAD v2:
9-133748347-C-T
gnomAD v3:
9-130872960-C-T
gnomAD v4:
9-130872960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872960C>T , CM000671.2:g.130872960C>T | GRCh38 |
| NC_000009.11:g.133748347C>T , CM000671.1:g.133748347C>T | GRCh37 |
| NC_000009.10:g.132738168C>T | NCBI36 |
| NG_012034.1:g.164080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.1065C>T | ENSP00000361423.2:p.Asn355= | |
| ENST00000318560.6:c.1008C>T MANE Select | ENSP00000323315.5:p.Asn336= | |
| ENST00000372348.7:c.1065C>T | ENSP00000361423.2:p.Asn355= | |
| ENST00000318560.5:c.1008C>T | ENSP00000323315.5:p.Asn336= | |
| ENST00000372348.6:c.1065C>T | ENSP00000361423.2:p.Asn355= | |
| NM_005157.5:c.1008C>T | NP_005148.2:p.Asn336= | |
| NM_007313.2:c.1065C>T | NP_009297.2:p.Asn355= | |
| NM_005157.6:c.1008C>T MANE Select | NP_005148.2:p.Asn336= | |
| NM_007313.3:c.1065C>T | NP_009297.2:p.Asn355= |