Linked Data
ClinVar Variation Id:
135564
dbSNP Id:
rs41269541
ExAC:
1:43815035 C / T
gnomAD v2:
1-43815035-C-T
gnomAD v3:
1-43349364-C-T
gnomAD v4:
1-43349364-C-T
COSMIC:
COSM26354
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349364C>T , CM000663.2:g.43349364C>T | GRCh38 |
| NC_000001.10:g.43815035C>T , CM000663.1:g.43815035C>T | GRCh37 |
| NC_000001.9:g.43587622C>T | NCBI36 |
| NG_007525.1:g.16561C>T , LRG_510:g.16561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1565+5C>T MANE Select | ENSP00000361548.3:n.1565+5C>T | |
| ENST00000413998.7:c.1544+5C>T | ENSP00000414004.3:n.1544+5C>T | |
| ENST00000638732.1:n.1570C>T | ||
| ENST00000643351.1:c.97+5C>T | ||
| ENST00000372470.7:c.1565+5C>T | ENSP00000361548.3:n.1565+5C>T | |
| ENST00000413998.6:c.1570C>T | ENSP00000414004.2:p.Arg524Cys | |
| ENST00000612993.1:c.1570C>T | ENSP00000480273.1:p.Arg524Cys | |
| NM_005373.2:c.1565+5C>T , LRG_510t1:c.1565+5C>T | NP_005364.1:n.1565+5C>T | |
| XM_011541478.1:c.1544+5C>T | XP_011539780.1:n.1544+5C>T | |
| XM_017001320.1:c.1736+5C>T | XP_016856809.1:n.1736+5C>T | |
| NM_005373.3:c.1565+5C>T MANE Select | NP_005364.1:n.1565+5C>T |