Linked Data
dbSNP Id:
rs1354408383
gnomAD v2:
11-116703723-C-T
gnomAD v3:
11-116833007-C-T
gnomAD v4:
11-116833007-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833007C>T , CM000673.2:g.116833007C>T | GRCh38 |
| NC_000011.9:g.116703723C>T , CM000673.1:g.116703723C>T | GRCh37 |
| NC_000011.8:g.116208933C>T | NCBI36 |
| NG_008949.1:g.8100C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*123C>T MANE Select | ENSP00000227667.2:n.*123C>T | |
| ENST00000227667.7:c.*123C>T | ENSP00000227667.2:n.*123C>T | |
| ENST00000375345.3:c.*123C>T | ENSP00000364494.1:n.*123C>T | |
| ENST00000630701.1:c.477C>T | ENSP00000486182.1:n.477C>T | |
| NM_000040.1:c.*123C>T | NP_000031.1:n.*123C>T | |
| NM_000040.2:c.*123C>T | NP_000031.1:n.*123C>T | |
| NM_000040.3:c.*123C>T MANE Select | NP_000031.1:n.*123C>T |