Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835516C>A , CM000670.2:g.117835516C>A | GRCh38 |
| NC_000008.10:g.118847755C>A , CM000670.1:g.118847755C>A | GRCh37 |
| NC_000008.9:g.118916936C>A | NCBI36 |
| NG_007455.2:g.281304G>T , LRG_493:g.281304G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.559G>T | ||
| ENST00000378204.7:c.1092G>T MANE Select | ENSP00000367446.3:p.Trp364Cys | |
| ENST00000436216.2:c.460G>T | ||
| ENST00000378204.6:c.1092G>T | ENSP00000367446.2:p.Trp364Cys | |
| ENST00000436216.1:c.460G>T | ||
| ENST00000437196.1:c.109G>T | ENSP00000407299.1:p.Gly37Ter | |
| NM_000127.2:c.1092G>T , LRG_493t1:c.1092G>T | NP_000118.2:p.Trp364Cys | |
| NM_000127.3:c.1092G>T MANE Select | NP_000118.2:p.Trp364Cys |