Linked Data
ClinVar Variation Id:
291104
dbSNP Id:
rs540593146
ExAC:
1:160253338 C / A
gnomAD v2:
1-160253338-C-A
gnomAD v3:
1-160283548-C-A
gnomAD v4:
1-160283548-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160283548C>A , CM000663.2:g.160283548C>A | GRCh38 |
| NC_000001.10:g.160253338C>A , CM000663.1:g.160253338C>A | GRCh37 |
| NC_000001.9:g.158519962C>A | NCBI36 |
| NG_008637.1:g.6604G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.162G>T MANE Select | ENSP00000357051.5:p.Ser54= | |
| ENST00000556710.6:c.71-439G>T | ENSP00000451235.2:n.71-439G>T | |
| ENST00000368072.9:c.162G>T | ENSP00000357051.5:p.Ser54= | |
| ENST00000392220.2:c.102G>T | ENSP00000376054.2:p.Ser34= | |
| ENST00000462644.5:c.102G>T | ENSP00000435896.1:p.Ser34= | |
| ENST00000472750.5:c.71-439G>T | ENSP00000434633.1:n.71-439G>T | |
| ENST00000524939.1:n.179G>T | ||
| ENST00000532508.5:n.134G>T | ||
| ENST00000532643.5:c.162G>T | ENSP00000435915.1:p.Ser54= | |
| ENST00000533104.1:n.80-439G>T | ||
| ENST00000533699.5:n.156G>T | ||
| ENST00000556710.5:c.-175-439G>T | ENSP00000451235.1:n.-175-439G>T | |
| NM_001193644.1:c.162G>T | NP_001180573.1:p.Ser54= | |
| NM_002857.3:c.162G>T | NP_002848.1:p.Ser54= | |
| NR_036492.1:n.98-439G>T | ||
| NR_036493.1:n.189G>T | ||
| NM_002857.4:c.162G>T MANE Select | NP_002848.1:p.Ser54= | |
| NR_036492.2:n.80-439G>T | ||
| NR_036493.2:n.171G>T |