Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181366A>C , CM000685.2:g.151181366A>C | GRCh38 |
| NC_000023.10:g.150349838A>C , CM000685.1:g.150349838A>C | GRCh37 |
| NC_000023.9:g.150100496A>C | NCBI36 |
| NG_016405.1:g.9783A>C | |
| NG_016405.2:g.9783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1783A>C MANE Select | ENSP00000218316.3:p.Thr595Pro | |
| ENST00000218316.3:c.1783A>C | ENSP00000218316.3:p.Thr595Pro | |
| ENST00000617907.1:c.1777A>C | ENSP00000484496.1:p.Thr593Pro | |
| NM_004224.3:c.1783A>C MANE Select | NP_004215.2:p.Thr595Pro | |
| XM_011531216.1:c.1042A>C | XP_011529518.1:p.Thr348Pro | |
| XM_011531216.2:c.1042A>C | XP_011529518.1:p.Thr348Pro |