Linked Data
ClinVar Variation Id:
542171
dbSNP Id:
rs138776588
ExAC:
12:57884116 C / T
gnomAD v2:
12-57884116-C-T
gnomAD v3:
12-57490333-C-T
gnomAD v4:
12-57490333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57490333C>T , CM000674.2:g.57490333C>T | GRCh38 |
| NC_000012.11:g.57884116C>T , CM000674.1:g.57884116C>T | GRCh37 |
| NC_000012.10:g.56170383C>T | NCBI36 |
| NG_034077.1:g.7381C>T | |
| NG_023205.2:g.3482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.617C>T MANE Select | ENSP00000262027.5:p.Pro206Leu | |
| ENST00000262027.9:c.617C>T | ENSP00000262027.5:p.Pro206Leu | |
| ENST00000447721.6:n.259C>T | ||
| ENST00000537638.6:c.617C>T | ENSP00000446168.2:p.Pro206Leu | |
| ENST00000545888.6:c.*118C>T | ENSP00000439307.2:n.*118C>T | |
| ENST00000548674.5:n.511C>T | ||
| ENST00000549074.5:c.327C>T | ENSP00000447258.1:p.Ala109= | |
| ENST00000550449.5:n.730C>T | ||
| ENST00000551431.5:c.*118C>T | ENSP00000446729.1:n.*118C>T | |
| ENST00000551892.1:c.165C>T | ENSP00000450018.1:p.Ala55= | |
| ENST00000552007.5:c.*187C>T | ENSP00000448576.1:n.*187C>T | |
| ENST00000552371.1:c.232C>T | ||
| ENST00000628866.2:c.*118C>T | ENSP00000486738.1:n.*118C>T | |
| ENST00000630803.1:c.165C>T | ENSP00000486356.1:p.Ala55= | |
| NM_004990.3:c.617C>T | NP_004981.2:p.Pro206Leu | |
| XM_006719398.2:c.-86C>T | XP_006719461.1:n.-86C>T | |
| XM_011538353.1:c.617C>T | XP_011536655.1:p.Pro206Leu | |
| XM_006719398.4:c.-86C>T | XP_006719461.1:n.-86C>T | |
| XR_001748704.2:n.640C>T | ||
| XR_002957327.1:n.564C>T | ||
| NM_004990.4:c.617C>T MANE Select | NP_004981.2:p.Pro206Leu |