Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034113C>G , CM000672.2:g.104034113C>G | GRCh38 |
| NC_000010.10:g.105793871C>G , CM000672.1:g.105793871C>G | GRCh37 |
| NC_000010.9:g.105783861C>G | NCBI36 |
| NG_007069.1:g.56768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3742G>C | ENSP00000358748.3:p.Ala1248Pro | |
| ENST00000647647.1:c.18G>C | ||
| ENST00000648076.2:c.3988G>C MANE Select | ENSP00000497653.1:p.Ala1330Pro | |
| ENST00000353479.9:c.3988G>C | ENSP00000340937.5:p.Ala1330Pro | |
| ENST00000369733.7:c.3742G>C | ENSP00000358748.3:p.Ala1248Pro | |
| NM_000494.3:c.3988G>C | NP_000485.3:p.Ala1330Pro | |
| NM_000494.4:c.3988G>C MANE Select | NP_000485.3:p.Ala1330Pro |