Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134844555T>C , CM000671.2:g.134844555T>C | GRCh38 |
| NC_000009.11:g.137736401T>C , CM000671.1:g.137736401T>C | GRCh37 |
| NC_000009.10:g.136876222T>C | NCBI36 |
| NG_008030.1:g.207750T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000093.5:c.*2252T>C MANE Select | NP_000084.3:n.*2252T>C |
| ENST00000371817.8:c.*2252T>C MANE Select | ENSP00000360882.3:n.*2252T>C |
| NM_000093.4:c.*2252T>C | NP_000084.3:n.*2252T>C |
| NM_001278074.1:c.*2252T>C | NP_001265003.1:n.*2252T>C |
| NR_103451.2:n.71-24346A>G | |
| ENST00000371817.7:c.*2252T>C | ENSP00000360882.3:n.*2252T>C |
| ENST00000371820.4:c.*2252T>C | ENSP00000360885.4:n.*2252T>C |
| ENST00000618395.4:c.*2252T>C | ENSP00000481360.1:n.*2252T>C |