Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32049349G>A , CM000668.2:g.32049349G>A | GRCh38 |
| NC_000006.11:g.32017126G>A , CM000668.1:g.32017126G>A | GRCh37 |
| NC_000006.10:g.32125104G>A | NCBI36 |
| NG_008337.2:g.65026C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.9678C>T MANE Select | NP_001352205.1:p.Pro3226= |
| ENST00000644971.2:c.9678C>T MANE Select | ENSP00000496448.1:p.Pro3226= |
| NM_001365276.1:c.9678C>T | NP_001352205.1:p.Pro3226= |
| NM_019105.6:c.9672C>T | NP_061978.6:p.Pro3224= |
| NM_019105.7:c.9672C>T | NP_061978.6:p.Pro3224= |
| NM_019105.8:c.9672C>T | NP_061978.6:p.Pro3224= |
| ENST00000375244.7:c.9678C>T | ENSP00000364393.3:p.Pro3226= |
| ENST00000611016.2:c.2832C>T | ENSP00000483409.1:p.Pro944= |
| ENST00000647633.1:c.10419C>T | ENSP00000497649.1:p.Pro3473= |