Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993038C>G , CM000685.2:g.154993038C>G | GRCh38 |
| NC_000023.10:g.154221313C>G , CM000685.1:g.154221313C>G | GRCh37 |
| NC_000023.9:g.153874507C>G | NCBI36 |
| NG_011403.1:g.34686G>C | |
| NG_011403.2:g.34686G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.499G>C MANE Select | ENSP00000353393.4:p.Ala167Pro | |
| ENST00000647125.1:c.*285G>C | ENSP00000496062.1:n.*285G>C | |
| ENST00000360256.8:c.499G>C | ENSP00000353393.4:p.Ala167Pro | |
| ENST00000423959.5:c.394G>C | ENSP00000409446.1:p.Ala132Pro | |
| ENST00000453950.1:c.481G>C | ENSP00000389153.1:p.Ala161Pro | |
| NM_000132.3:c.499G>C | NP_000123.1:p.Ala167Pro | |
| XM_011531126.1:c.394G>C | XP_011529428.1:p.Ala132Pro | |
| NM_000132.4:c.499G>C MANE Select | NP_000123.1:p.Ala167Pro |