Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240028T>C , CM000674.2:g.65240028T>C | GRCh38 |
| NC_000012.11:g.65633808T>C , CM000674.1:g.65633808T>C | GRCh37 |
| NC_000012.10:g.63920075T>C | NCBI36 |
| NG_016210.1:g.75458T>C | |
| NG_016210.2:g.75458T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2021T>C MANE Select | ENSP00000308369.2:p.Ile674Thr | |
| ENST00000308330.2:c.2021T>C | ENSP00000308369.2:p.Ile674Thr | |
| NM_001167614.1:c.2018T>C | NP_001161086.1:p.Ile673Thr | |
| NM_014319.4:c.2021T>C | NP_055134.2:p.Ile674Thr | |
| NM_014319.5:c.2021T>C MANE Select | NP_055134.2:p.Ile674Thr | |
| NM_001167614.2:c.2018T>C | NP_001161086.1:p.Ile673Thr |