Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104037749G>C , CM000672.2:g.104037749G>C | GRCh38 |
| NC_000010.10:g.105797507G>C , CM000672.1:g.105797507G>C | GRCh37 |
| NC_000010.9:g.105787497G>C | NCBI36 |
| NG_007069.1:g.53132C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2960C>G | ENSP00000358748.3:p.Ser987Cys | |
| ENST00000648076.2:c.3095C>G MANE Select | ENSP00000497653.1:p.Ser1032Cys | |
| ENST00000353479.9:c.3095C>G | ENSP00000340937.5:p.Ser1032Cys | |
| ENST00000369733.7:c.2960C>G | ENSP00000358748.3:p.Ser987Cys | |
| NM_000494.3:c.3095C>G | NP_000485.3:p.Ser1032Cys | |
| NM_000494.4:c.3095C>G MANE Select | NP_000485.3:p.Ser1032Cys |