Linked Data
dbSNP Id:
rs1426074985
gnomAD v2:
14-51372081-G-A
gnomAD v3:
14-50905363-G-A
gnomAD v4:
14-50905363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905363G>A , CM000676.2:g.50905363G>A | GRCh38 |
| NC_000014.8:g.51372081G>A , CM000676.1:g.51372081G>A | GRCh37 |
| NC_000014.7:g.50441831G>A | NCBI36 |
| NG_012796.1:g.44168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.*29C>T MANE Select | ENSP00000216392.7:n.*29C>T | |
| ENST00000216392.7:c.*29C>T | ENSP00000216392.7:n.*29C>T | |
| ENST00000532462.5:c.2379+2908C>T | ENSP00000431657.1:n.2379+2908C>T | |
| ENST00000544180.6:c.*29C>T | ENSP00000443787.1:n.*29C>T | |
| NM_001163940.1:c.*29C>T | NP_001157412.1:n.*29C>T | |
| NM_002863.4:c.*29C>T | NP_002854.3:n.*29C>T | |
| NM_002863.5:c.*29C>T MANE Select | NP_002854.3:n.*29C>T | |
| NM_001163940.2:c.*29C>T | NP_001157412.1:n.*29C>T |