Linked Data
dbSNP Id:
rs772156227
ExAC:
1:173826798 C / T
gnomAD v2:
1-173826798-C-T
gnomAD v4:
1-173857660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857660C>T , CM000663.2:g.173857660C>T | GRCh38 |
| NC_000001.10:g.173826798C>T , CM000663.1:g.173826798C>T | GRCh37 |
| NC_000001.9:g.172093421C>T | NCBI36 |
| NG_016138.1:g.38002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471476.2:c.*1472C>T | ENSP00000497663.1:n.*1472C>T | |
| ENST00000647645.1:c.1830C>T | ENSP00000497450.1:p.Ile610= | |
| ENST00000647730.1:c.*1583C>T | ENSP00000497781.1:n.*1583C>T | |
| ENST00000647788.1:c.*1037C>T | ENSP00000497769.1:n.*1037C>T | |
| ENST00000648271.1:c.*2359C>T | ENSP00000497795.1:n.*2359C>T | |
| ENST00000648807.1:c.1740C>T | ENSP00000497472.1:p.Ile580= | |
| ENST00000648960.1:c.1410C>T | ENSP00000497091.1:p.Ile470= | |
| ENST00000649067.1:c.*896C>T | ENSP00000497052.1:n.*896C>T | |
| ENST00000649689.2:c.1893C>T MANE Select | ENSP00000497569.1:p.Ile631= | |
| ENST00000361951.4:c.1893C>T | ENSP00000355086.4:p.Ile631= | |
| ENST00000471476.1:n.715C>T | ||
| NM_018122.4:c.1893C>T | NP_060592.2:p.Ile631= | |
| XM_006711427.2:c.1740C>T | XP_006711490.1:p.Ile580= | |
| NM_001365212.1:c.1740C>T | NP_001352141.1:p.Ile580= | |
| NM_018122.5:c.1893C>T MANE Select | NP_060592.2:p.Ile631= |