Linked Data
dbSNP Id:
rs755647628
ExAC:
6:24174928 C / T
gnomAD v2:
6-24174928-C-T
gnomAD v3:
6-24174700-C-T
gnomAD v4:
6-24174700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24174700C>T , CM000668.2:g.24174700C>T | GRCh38 |
| NC_000006.11:g.24174928C>T , CM000668.1:g.24174928C>T | GRCh37 |
| NC_000006.10:g.24282907C>T | NCBI36 |
| NG_012829.1:g.188353G>A | |
| NG_012829.2:g.213593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.*30G>A MANE Select | ENSP00000367715.3:n.*30G>A | |
| ENST00000378450.6:c.*30G>A | ENSP00000367711.3:n.*30G>A | |
| ENST00000378454.7:c.*30G>A | ENSP00000367715.3:n.*30G>A | |
| NM_001195610.1:c.*30G>A | NP_001182539.1:n.*30G>A | |
| NM_016356.4:c.*30G>A | NP_057440.2:n.*30G>A | |
| NM_016356.5:c.*30G>A MANE Select | NP_057440.2:n.*30G>A | |
| NM_001195610.2:c.*30G>A | NP_001182539.1:n.*30G>A |