Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181177A= , CM000685.2:g.151181177A= | GRCh38 |
| NC_000023.10:g.150349649A= , CM000685.1:g.150349649A= | GRCh37 |
| NC_000023.9:g.150100307A= | NCBI36 |
| NG_016405.1:g.9594A= | |
| NG_016405.2:g.9594A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1594A= MANE Select | ENSP00000218316.3:p.Thr532= | |
| ENST00000218316.3:c.1594A= | ENSP00000218316.3:p.Thr532= | |
| ENST00000617907.1:c.1588A= | ENSP00000484496.1:p.Thr530= | |
| NM_004224.3:c.1594A= MANE Select | NP_004215.2:p.Thr532= | |
| XM_011531216.1:c.853A= | XP_011529518.1:p.Thr285= | |
| XM_011531216.2:c.853A= | XP_011529518.1:p.Thr285= |