Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.911992T>C , CM000667.2:g.911992T>C | GRCh38 |
| NC_000005.9:g.912107T>C , CM000667.1:g.912107T>C | GRCh37 |
| NC_000005.8:g.965107T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004237.4:c.1016T>C MANE Select | NP_004228.1:p.Met339Thr |
| ENST00000166345.8:c.1016T>C MANE Select | ENSP00000166345.3:p.Met339Thr |
| NM_004237.3:c.1016T>C | NP_004228.1:p.Met339Thr |
| ENST00000166345.7:c.1016T>C | ENSP00000166345.3:p.Met339Thr |
| XM_011514163.1:c.1016T>C | XP_011512465.1:p.Met339Thr |
| XM_011514163.2:c.1016T>C | XP_011512465.1:p.Met339Thr |
| XR_925677.1:n.232+370A>G |