Linked Data
dbSNP Id:
rs1318809672
gnomAD v2:
17-39743043-T-C
gnomAD v3:
17-41586791-T-C
gnomAD v4:
17-41586791-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586791T>C , CM000679.2:g.41586791T>C | GRCh38 |
| NC_000017.10:g.39743043T>C , CM000679.1:g.39743043T>C | GRCh37 |
| NC_000017.9:g.36996569T>C | NCBI36 |
| NG_008624.1:g.5105A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.44A>G MANE Select | ENSP00000167586.6:p.Lys15Arg | |
| ENST00000167586.6:c.44A>G | ENSP00000167586.6:p.Lys15Arg | |
| NM_000526.4:c.44A>G | NP_000517.2:p.Lys15Arg | |
| NM_000526.5:c.44A>G MANE Select | NP_000517.3:p.Lys15Arg |