Linked Data
dbSNP Id:
rs764452361
ExAC:
4:100504598 G / T
gnomAD v2:
4-100504598-G-T
gnomAD v3:
4-99583441-G-T
gnomAD v4:
4-99583441-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583441G>T , CM000666.2:g.99583441G>T | GRCh38 |
| NC_000004.11:g.100504598G>T , CM000666.1:g.100504598G>T | GRCh37 |
| NC_000004.10:g.100723621G>T | NCBI36 |
| NG_011469.1:g.24359G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.317G>T MANE Select | ENSP00000265517.5:p.Ser106Ile | |
| ENST00000457717.6:c.317G>T | ENSP00000400821.1:p.Ser106Ile | |
| ENST00000511045.6:c.68G>T | ENSP00000427679.2:p.Ser23Ile | |
| ENST00000265517.9:c.317G>T | ENSP00000265517.5:p.Ser106Ile | |
| ENST00000422897.6:c.317G>T | ENSP00000407350.2:p.Ser106Ile | |
| ENST00000457717.5:c.317G>T | ENSP00000400821.1:p.Ser106Ile | |
| ENST00000506883.5:c.347G>T | ENSP00000426755.1:p.Ser116Ile | |
| ENST00000511045.5:c.398G>T | ENSP00000427679.1:p.Ser133Ile | |
| ENST00000515141.5:c.*380G>T | ENSP00000425642.1:n.*380G>T | |
| ENST00000619629.1:c.317G>T | ENSP00000482850.1:p.Ser106Ile | |
| NM_000253.3:c.317G>T | NP_000244.2:p.Ser106Ile | |
| NM_001300785.1:c.398G>T | NP_001287714.1:p.Ser133Ile | |
| NM_000253.4:c.317G>T | NP_000244.2:p.Ser106Ile | |
| NM_001300785.2:c.68G>T | NP_001287714.2:p.Ser23Ile | |
| NM_001386140.1:c.317G>T MANE Select | NP_001373069.1:p.Ser106Ile |