Linked Data
ClinVar Variation Id:
355059
dbSNP Id:
rs145590972
ExAC:
6:112382236 C / A
gnomAD v2:
6-112382236-C-A
gnomAD v3:
6-112061033-C-A
gnomAD v4:
6-112061033-C-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112061033C>A , CM000668.2:g.112061033C>A | GRCh38 |
| NC_000006.11:g.112382236C>A , CM000668.1:g.112382236C>A | GRCh37 |
| NC_000006.10:g.112488929C>A | NCBI36 |
| NG_011748.1:g.11959C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.91C>A MANE Select | ENSP00000357655.4:p.Pro31Thr | |
| ENST00000230529.9:c.91C>A | ENSP00000230529.5:p.Pro31Thr | |
| ENST00000361714.5:c.91C>A | ENSP00000354734.2:p.Pro31Thr | |
| ENST00000368663.4:c.91C>A | ENSP00000357652.4:p.Pro31Thr | |
| ENST00000368664.7:c.145C>A | ENSP00000357653.3:p.Pro49Thr | |
| ENST00000368666.6:c.145C>A | ENSP00000357655.3:p.Pro49Thr | |
| ENST00000409166.5:c.-507-246C>A | ENSP00000386467.1:n.-507-246C>A | |
| ENST00000454589.5:c.91C>A | ENSP00000395928.1:p.Pro31Thr | |
| ENST00000604763.5:c.91C>A | ENSP00000473777.1:p.Pro31Thr | |
| ENST00000620524.3:n.64-39C>A | ||
| NM_003880.3:c.91C>A | NP_003871.1:p.Pro31Thr | |
| NM_198239.1:c.145C>A | NP_937882.1:p.Pro49Thr | |
| NR_125353.1:n.281C>A | ||
| NR_125354.1:n.201C>A | ||
| XM_011536220.1:c.91C>A | XP_011534522.1:p.Pro31Thr | |
| XM_011536221.1:c.154C>A | XP_011534523.1:p.Pro52Thr | |
| XM_011536222.1:c.229C>A | XP_011534524.1:p.Pro77Thr | |
| XM_011536222.2:c.154C>A | XP_011534524.2:p.Pro52Thr | |
| XR_001743705.1:n.629C>A | ||
| NM_003880.4:c.91C>A | NP_003871.1:p.Pro31Thr | |
| NM_198239.2:c.91C>A MANE Select | NP_937882.2:p.Pro31Thr | |
| NR_125353.2:n.345C>A | ||
| NR_125354.3:n.172C>A |