Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6076018A>G , CM000682.2:g.6076018A>G | GRCh38 |
| NC_000020.10:g.6056665A>G , CM000682.1:g.6056665A>G | GRCh37 |
| NC_000020.9:g.6004665A>G | NCBI36 |
| NG_016213.1:g.52527T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.*1155T>C MANE Select | NP_060141.3:n.*1155T>C |
| ENST00000217289.9:c.*1155T>C MANE Select | ENSP00000217289.4:n.*1155T>C |
| NM_017671.4:c.*1155T>C | NP_060141.3:n.*1155T>C |
| ENST00000217289.8:c.*1155T>C | ENSP00000217289.4:n.*1155T>C |
| ENST00000478194.1:n.2149T>C | |
| ENST00000699095.1:c.*1155T>C | ENSP00000514127.1:n.*1155T>C |
| XM_024451935.1:c.*1155T>C | XP_024307703.1:n.*1155T>C |