Linked Data
ClinVar Variation Id:
492806
dbSNP Id:
rs761957186
ExAC:
1:169446772 G / A
gnomAD v2:
1-169446772-G-A
gnomAD v4:
1-169477534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169477534G>A , CM000663.2:g.169477534G>A | GRCh38 |
| NC_000001.10:g.169446772G>A , CM000663.1:g.169446772G>A | GRCh37 |
| NC_000001.9:g.167713396G>A | NCBI36 |
| NG_008255.1:g.13437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.428C>T MANE Select | ENSP00000236137.5:p.Ser143Phe | |
| ENST00000646596.1:c.428C>T | ENSP00000494404.1:p.Ser143Phe | |
| ENST00000236137.9:c.428C>T | ENSP00000236137.5:p.Ser143Phe | |
| ENST00000367804.4:c.205-7348C>T | ENSP00000356778.3:n.205-7348C>T | |
| NM_006996.2:c.428C>T | NP_008927.1:p.Ser143Phe | |
| XM_011509076.1:c.236C>T | XP_011507378.1:p.Ser79Phe | |
| XM_011509077.1:c.205-7348C>T | XP_011507379.1:n.205-7348C>T | |
| NM_001319667.1:c.205-7348C>T | NP_001306596.1:n.205-7348C>T | |
| NM_006996.3:c.428C>T MANE Select | NP_008927.1:p.Ser143Phe |