Linked Data
dbSNP Id:
rs1461434378
gnomAD v2:
6-35791319-C-T
gnomAD v3:
6-35823542-C-T
gnomAD v4:
6-35823542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823542C>T , CM000668.2:g.35823542C>T | GRCh38 |
| NC_000006.11:g.35791319C>T , CM000668.1:g.35791319C>T | GRCh37 |
| NC_000006.10:g.35899297C>T | NCBI36 |
| NG_012184.1:g.23249C>T | |
| NG_012184.2:g.23249C>T | |
| NG_012184.3:g.31337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*577C>T MANE Select | ENSP00000353346.1:n.*577C>T | |
| ENST00000496656.2:n.578+3722C>T | ||
| ENST00000651132.1:c.*577C>T | ENSP00000498322.1:n.*577C>T | |
| ENST00000651676.1:c.*16+4079C>T | ENSP00000498699.1:n.*16+4079C>T | |
| ENST00000651994.1:c.*657C>T | ENSP00000498310.1:n.*657C>T | |
| ENST00000652718.1:c.508+4079C>T | ENSP00000498866.1:n.508+4079C>T | |
| ENST00000360215.2:c.*577C>T | ENSP00000353346.1:n.*577C>T | |
| ENST00000496656.1:n.812+3722C>T | ||
| NM_182548.3:c.*577C>T | NP_872354.1:n.*577C>T | |
| NM_182548.4:c.*577C>T MANE Select | NP_872354.1:n.*577C>T |