Linked Data
ClinVar Variation Id:
334370
dbSNP Id:
rs143600636
ExAC:
2:219677417 C / T
gnomAD v2:
2-219677417-C-T
gnomAD v3:
2-218812694-C-T
gnomAD v4:
2-218812694-C-T
COSMIC:
COSM1649759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812694C>T , CM000664.2:g.218812694C>T | GRCh38 |
| NC_000002.11:g.219677417C>T , CM000664.1:g.219677417C>T | GRCh37 |
| NC_000002.10:g.219385661C>T | NCBI36 |
| NG_007959.1:g.35946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.789C>T MANE Select | ENSP00000258415.4:p.Pro263= | |
| ENST00000258415.8:c.789C>T | ENSP00000258415.4:p.Pro263= | |
| ENST00000411688.1:c.507C>T | ENSP00000392671.1:p.Pro169= | |
| ENST00000445971.1:c.*250C>T | ENSP00000404945.1:n.*250C>T | |
| ENST00000466602.1:n.737C>T | ||
| ENST00000494263.5:n.1223C>T | ||
| NM_000784.3:c.789C>T | NP_000775.1:p.Pro263= | |
| XM_017003488.2:c.369C>T | XP_016858977.1:p.Pro123= | |
| NM_000784.4:c.789C>T MANE Select | NP_000775.1:p.Pro263= |