Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17127762C>G , CM000678.2:g.17127762C>G | GRCh38 |
| NC_000016.9:g.17221619C>G , CM000678.1:g.17221619C>G | GRCh37 |
| NC_000016.8:g.17129120C>G | NCBI36 |
| NG_015843.1:g.348120G>C | |
| NG_015843.2:g.348120G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022166.4:c.2127G>C MANE Select | NP_071449.1:p.Val709= |
| ENST00000261381.7:c.2127G>C MANE Select | ENSP00000261381.6:p.Val709= |
| NM_022166.3:c.2127G>C | NP_071449.1:p.Val709= |
| ENST00000261381.6:c.2127G>C | ENSP00000261381.6:p.Val709= |
| XM_011522574.1:c.2127G>C | XP_011520876.1:p.Val709= |
| XM_017023539.2:c.2127G>C | XP_016879028.1:p.Val709= |
| XM_017023540.2:c.2127G>C | XP_016879029.1:p.Val709= |