Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350848T>G , CM000674.2:g.89350848T>G | GRCh38 |
| NC_000012.11:g.89744625T>G , CM000674.1:g.89744625T>G | GRCh37 |
| NC_000012.10:g.88268756T>G | NCBI36 |
| NG_033915.1:g.7012A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.578A>C MANE Select | ENSP00000279488.6:p.Asp193Ala | |
| ENST00000279488.7:c.578A>C | ENSP00000279488.6:p.Asp193Ala | |
| ENST00000308385.6:c.400+792A>C | ENSP00000307835.6:n.400+792A>C | |
| ENST00000547140.1:n.264A>C | ||
| ENST00000547291.1:c.203A>C | ENSP00000449838.1:p.Asp68Ala | |
| NM_001946.3:c.578A>C | NP_001937.2:p.Asp193Ala | |
| NM_022652.3:c.400+792A>C | NP_073143.2:n.400+792A>C | |
| NM_001946.4:c.578A>C MANE Select | NP_001937.2:p.Asp193Ala | |
| NM_022652.4:c.400+792A>C | NP_073143.2:n.400+792A>C |