Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015230G= , CM000664.2:g.21015230G= | GRCh38 |
| NC_000002.11:g.21238102G= , CM000664.1:g.21238102G= | GRCh37 |
| NC_000002.10:g.21091607G= | NCBI36 |
| NG_011793.1:g.33844C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2845C= | ENSP00000501110.2:n.*2845C= | |
| ENST00000673882.2:c.*2634C= | ENSP00000501253.2:n.*2634C= | |
| ENST00000673739.1:c.3253C= | ENSP00000501110.1:n.3253C= | |
| ENST00000673882.1:c.3042C= | ENSP00000501253.1:n.3042C= | |
| ENST00000233242.5:c.3539C= MANE Select | ENSP00000233242.1:p.Thr1180= | |
| ENST00000616098.4:c.3539C= | ENSP00000477990.1:p.Thr1180= | |
| NM_000384.2:c.3539C= | NP_000375.2:p.Thr1180= | |
| XM_011532809.1:c.3539C= | XP_011531111.1:p.Thr1180= | |
| NM_000384.3:c.3539C= MANE Select | NP_000375.3:p.Thr1180= |