Linked Data
ClinVar Variation Id:
784249
ClinVar RCV Id:
RCV000965901
dbSNP Id:
rs61545347
ExAC:
12:75889352 T / C
gnomAD v2:
12-75889352-T-C
gnomAD v3:
12-75495572-T-C
gnomAD v4:
12-75495572-T-C
MyVariant Identifiers:
chr12:g.75889352T>C (hg19)
chr12:g.75889352_75889354delinsCAC (hg19)
chr12:g.75495572T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.75495572T>C , CM000674.2:g.75495572T>C | GRCh38 |
| NC_000012.11:g.75889352T>C , CM000674.1:g.75889352T>C | GRCh37 |
| NC_000012.10:g.74175619T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229214.9:c.*4237A>G (KRR1) MANE Select | ENSP00000229214.4:n.*4237A>G | |
| ENST00000266659.8:c.534-5T>C (GLIPR1) MANE Select | ENSP00000266659.3:n.534-5T>C | |
| ENST00000229214.8:c.*4237A>G (KRR1) | ENSP00000229214.4:n.*4237A>G | |
| ENST00000266659.7:c.534-5T>C (GLIPR1) | ENSP00000266659.3:n.534-5T>C | |
| ENST00000456650.7:c.605-5T>C (GLIPR1) | ENSP00000391144.3:n.605-5T>C | |
| ENST00000536703.5:c.421-5T>C (GLIPR1) | ENSP00000440595.1:n.421-5T>C | |
| ENST00000550491.1:c.182-5T>C (GLIPR1) | ENSP00000448008.1:n.182-5T>C | |
| NM_006851.2:c.534-5T>C (GLIPR1) | NP_006842.2:n.534-5T>C | |
| XM_011537775.1:c.605-5T>C (GLIPR1) | XP_011536077.1:n.605-5T>C | |
| XM_011537775.2:c.605-5T>C (GLIPR1) | XP_011536077.1:n.605-5T>C | |
| NM_006851.3:c.534-5T>C (GLIPR1) MANE Select | NP_006842.2:n.534-5T>C | |
| NM_007043.7:c.*4237A>G (KRR1) MANE Select | NP_008974.5:n.*4237A>G |