Linked Data
ClinVar Variation Id:
2169893
ClinVar RCV Id:
RCV003085060
dbSNP Id:
rs772556855
ExAC:
12:116460275 G / A
gnomAD v2:
12-116460275-G-A
gnomAD v3:
12-116022470-G-A
gnomAD v4:
12-116022470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116022470G>A , CM000674.2:g.116022470G>A | GRCh38 |
| NC_000012.11:g.116460275G>A , CM000674.1:g.116460275G>A | GRCh37 |
| NC_000012.10:g.114944658G>A | NCBI36 |
| NG_023366.1:g.259717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.611C>T MANE Select | ENSP00000281928.3:p.Pro204Leu | |
| ENST00000548743.2:c.581C>T | ENSP00000448553.2:p.Pro194Leu | |
| ENST00000549786.2:c.39C>T | ||
| ENST00000647567.1:c.521C>T | ENSP00000497136.1:p.Pro174Leu | |
| ENST00000648737.1:n.375C>T | ||
| ENST00000650226.1:c.611C>T | ENSP00000496981.1:p.Pro204Leu | |
| ENST00000281928.7:c.611C>T | ENSP00000281928.3:p.Pro204Leu | |
| NM_015335.4:c.611C>T | NP_056150.1:p.Pro204Leu | |
| XM_011538080.1:c.611C>T | XP_011536382.1:p.Pro204Leu | |
| XM_011538081.1:c.611C>T | XP_011536383.1:p.Pro204Leu | |
| XM_011538082.1:c.581C>T | XP_011536384.1:p.Pro194Leu | |
| XM_011538080.2:c.611C>T | XP_011536382.1:p.Pro204Leu | |
| XM_011538081.2:c.611C>T | XP_011536383.1:p.Pro204Leu | |
| XM_011538082.2:c.581C>T | XP_011536384.1:p.Pro194Leu | |
| XM_017019090.1:c.611C>T | XP_016874579.1:p.Pro204Leu | |
| NM_015335.5:c.611C>T MANE Select | NP_056150.1:p.Pro204Leu |