Linked Data
ClinVar Variation Id:
210619
dbSNP Id:
rs142289528
ExAC:
17:38445837 C / T
gnomAD v2:
17-38445837-C-T
gnomAD v3:
17-40289585-C-T
gnomAD v4:
17-40289585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40289585C>T , CM000679.2:g.40289585C>T | GRCh38 |
| NC_000017.10:g.38445837C>T , CM000679.1:g.38445837C>T | GRCh37 |
| NC_000017.9:g.35699363C>T | NCBI36 |
| NG_028240.1:g.6692C>T | |
| NG_028240.2:g.6707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209728.9:c.165C>T MANE Select | ENSP00000209728.4:p.Pro55= | |
| ENST00000649662.1:c.165C>T | ENSP00000497345.1:p.Pro55= | |
| ENST00000209728.8:c.165C>T | ENSP00000209728.4:p.Pro55= | |
| ENST00000473555.1:c.165C>T | ENSP00000464047.1:p.Pro55= | |
| ENST00000577249.1:c.165C>T | ENSP00000463004.1:p.Pro55= | |
| ENST00000580824.5:c.165C>T | ENSP00000463635.1:p.Pro55= | |
| NM_001254.3:c.165C>T | NP_001245.1:p.Pro55= | |
| XM_011525541.1:c.165C>T | XP_011523843.1:p.Pro55= | |
| XM_011525542.1:c.165C>T | XP_011523844.1:p.Pro55= | |
| NM_001254.4:c.165C>T MANE Select | NP_001245.1:p.Pro55= | |
| XM_011525541.2:c.165C>T | XP_011523843.1:p.Pro55= |