Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83924518A>C , CM000668.2:g.83924518A>C | GRCh38 |
| NC_000006.11:g.84634237A>C , CM000668.1:g.84634237A>C | GRCh37 |
| NC_000006.10:g.84690956A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016230.4:c.740A>C MANE Select | NP_057314.2:p.Lys247Thr |
| ENST00000369681.10:c.740A>C MANE Select | ENSP00000358695.3:p.Lys247Thr |
| NM_001400774.1:c.638A>C | NP_001387703.1:p.Lys213Thr |
| NM_016230.3:c.740A>C | NP_057314.2:p.Lys247Thr |
| NR_174603.1:n.899A>C | |
| NR_174604.1:n.961A>C | |
| NR_174605.1:n.1120A>C | |
| ENST00000369681.9:c.740A>C | ENSP00000358695.3:p.Lys247Thr |