Linked Data
ClinVar Variation Id:
224055
ClinVar RCV Id:
RCV000209747
dbSNP Id:
rs148905512
ExAC:
6:80878668 C / T
gnomAD v2:
6-80878668-C-T
gnomAD v3:
6-80168951-C-T
gnomAD v4:
6-80168951-C-T
PubMed:
PMID:26257134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80168951C>T , CM000668.2:g.80168951C>T | GRCh38 |
| NC_000006.11:g.80878668C>T , CM000668.1:g.80878668C>T | GRCh37 |
| NC_000006.10:g.80935387C>T | NCBI36 |
| NG_009775.1:g.67325C>T | |
| NG_009775.2:g.67325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.554C>T MANE Select | ENSP00000318351.5:p.Pro185Leu | |
| ENST00000320393.8:c.554C>T | ENSP00000318351.5:p.Pro185Leu | |
| ENST00000356489.9:c.554C>T | ENSP00000348880.5:p.Pro185Leu | |
| ENST00000369760.8:c.554C>T | ENSP00000358775.4:p.Pro185Leu | |
| NM_000056.3:c.554C>T | NP_000047.1:p.Pro185Leu | |
| NM_183050.2:c.554C>T | NP_898871.1:p.Pro185Leu | |
| XM_005248756.3:c.554C>T | XP_005248813.1:p.Pro185Leu | |
| XM_006715542.2:c.344C>T | XP_006715605.1:p.Pro115Leu | |
| XM_011536023.1:c.554C>T | XP_011534325.1:p.Pro185Leu | |
| XM_011536024.1:c.554C>T | XP_011534326.1:p.Pro185Leu | |
| XM_011536025.1:c.554C>T | XP_011534327.1:p.Pro185Leu | |
| XM_011536026.1:c.344C>T | XP_011534328.1:p.Pro115Leu | |
| XM_011536027.1:c.554C>T | XP_011534329.1:p.Pro185Leu | |
| NM_000056.4:c.554C>T | NP_000047.1:p.Pro185Leu | |
| NM_001318975.1:c.344C>T | NP_001305904.1:p.Pro115Leu | |
| NM_183050.3:c.554C>T | NP_898871.1:p.Pro185Leu | |
| NR_134945.1:n.638C>T | ||
| XM_005248756.5:c.554C>T | XP_005248813.1:p.Pro185Leu | |
| XM_011536023.3:c.554C>T | XP_011534325.1:p.Pro185Leu | |
| XM_011536024.3:c.554C>T | XP_011534326.1:p.Pro185Leu | |
| XM_011536025.3:c.554C>T | XP_011534327.1:p.Pro185Leu | |
| XR_001743546.2:n.584C>T | ||
| XR_001743547.2:n.584C>T | ||
| XR_001743548.2:n.584C>T | ||
| XR_001743549.2:n.584C>T | ||
| XR_002956292.1:n.584C>T | ||
| NM_183050.4:c.554C>T MANE Select | NP_898871.1:p.Pro185Leu | |
| NR_134945.2:n.577C>T | ||
| NM_000056.5:c.554C>T | NP_000047.1:p.Pro185Leu |