Linked Data
ClinVar Variation Id:
542174
dbSNP Id:
rs35843015
ExAC:
12:57910332 C / T
gnomAD v2:
12-57910332-C-T
gnomAD v3:
12-57516549-C-T
gnomAD v4:
12-57516549-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57516549C>T , CM000674.2:g.57516549C>T | GRCh38 |
| NC_000012.11:g.57910332C>T , CM000674.1:g.57910332C>T | GRCh37 |
| NC_000012.10:g.56196599C>T | NCBI36 |
| NG_027674.1:g.8969G>A | |
| NG_034077.1:g.33597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.2671C>T MANE Select | ENSP00000262027.5:p.Pro891Ser | |
| ENST00000262027.9:c.2671C>T | ENSP00000262027.5:p.Pro891Ser | |
| ENST00000537638.6:c.*963C>T | ENSP00000446168.2:n.*963C>T | |
| ENST00000545888.6:c.*2425C>T | ENSP00000439307.2:n.*2425C>T | |
| ENST00000547665.5:c.564C>T | ||
| ENST00000548944.1:c.188C>T | ENSP00000449071.1:n.188C>T | |
| ENST00000551172.1:c.601C>T | ||
| ENST00000552499.5:c.456C>T | ENSP00000447335.1:n.456C>T | |
| ENST00000552914.5:c.628C>T | ENSP00000449787.1:p.Pro210Ser | |
| ENST00000628866.2:c.*2172C>T | ENSP00000486738.1:n.*2172C>T | |
| NM_004990.3:c.2671C>T | NP_004981.2:p.Pro891Ser | |
| XM_006719398.2:c.1969C>T | XP_006719461.1:p.Pro657Ser | |
| XM_006719398.4:c.1969C>T | XP_006719461.1:p.Pro657Ser | |
| XR_001748704.2:n.2627C>T | ||
| XR_002957327.1:n.2871C>T | ||
| NM_004990.4:c.2671C>T MANE Select | NP_004981.2:p.Pro891Ser |