Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665940A>C , CM000679.2:g.39665940A>C | GRCh38 |
| NC_000017.10:g.37822193A>C , CM000679.1:g.37822193A>C | GRCh37 |
| NC_000017.9:g.35075719A>C | NCBI36 |
| NG_008892.1:g.5595A>C , LRG_210:g.5595A>C | |
| NG_042278.1:g.2960A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.335A>C MANE Select | ENSP00000312624.2:p.Gln112Pro | |
| ENST00000309889.2:c.335A>C | ENSP00000312624.2:p.Gln112Pro | |
| ENST00000578283.1:c.263A>C | ENSP00000462787.1:p.Gln88Pro | |
| NM_003673.3:c.335A>C , LRG_210t1:c.335A>C | NP_003664.1:p.Gln112Pro | |
| NM_003673.4:c.335A>C MANE Select | NP_003664.1:p.Gln112Pro |