Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29312787A>T , CM000684.2:g.29312787A>T | GRCh38 |
| NC_000022.10:g.29708776A>T , CM000684.1:g.29708776A>T | GRCh37 |
| NC_000022.9:g.28038776A>T | NCBI36 |
| NG_032959.1:g.10781A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616432.5:c.*290A>T MANE Select | ENSP00000478908.1:n.*290A>T | |
| NM_001278730.1:c.*290A>T | NP_001265659.1:n.*290A>T | |
| NM_006478.4:c.*290A>T | NP_006469.2:n.*290A>T | |
| NM_152236.2:c.*290A>T | NP_689422.1:n.*290A>T | |
| XM_011529824.1:c.*290A>T | XP_011528126.1:n.*290A>T | |
| XM_011529825.1:c.*290A>T | XP_011528127.1:n.*290A>T | |
| NM_001362985.1:c.*290A>T | NP_001349914.1:n.*290A>T | |
| XM_017028533.1:c.*290A>T | XP_016884022.1:n.*290A>T | |
| NM_001278730.2:c.*290A>T | NP_001265659.1:n.*290A>T | |
| NM_001362985.2:c.*290A>T | NP_001349914.1:n.*290A>T | |
| NM_006478.5:c.*290A>T | NP_006469.2:n.*290A>T | |
| NM_152236.3:c.*290A>T | NP_689422.1:n.*290A>T | |
| NM_001362985.3:c.*290A>T MANE Select | NP_001349914.1:n.*290A>T | |
| NM_001395196.1:c.*290A>T | NP_001382125.1:n.*290A>T | |
| NM_001395197.1:c.*290A>T | NP_001382126.1:n.*290A>T |