Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130588C>A , CM000668.2:g.18130588C>A | GRCh38 |
| NC_000006.11:g.18130819C>A , CM000668.1:g.18130819C>A | GRCh37 |
| NC_000006.10:g.18238798C>A | NCBI36 |
| NG_012137.2:g.29556G>T | |
| NG_012137.3:g.29556G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.*80G>T MANE Select | ENSP00000312304.4:n.*80G>T | |
| ENST00000309983.4:c.*80G>T | ENSP00000312304.4:n.*80G>T | |
| NM_000367.3:c.*80G>T | NP_000358.1:n.*80G>T | |
| XM_011514839.1:c.*80G>T | XP_011513141.1:n.*80G>T | |
| XM_011514840.1:c.*80G>T | XP_011513142.1:n.*80G>T | |
| NM_000367.4:c.*80G>T | NP_000358.1:n.*80G>T | |
| NM_001346817.1:c.*80G>T | NP_001333746.1:n.*80G>T | |
| NM_001346818.1:c.*80G>T | NP_001333747.1:n.*80G>T | |
| NM_000367.5:c.*80G>T MANE Select | NP_000358.1:n.*80G>T |