Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843126T>C , CM000671.2:g.134843126T>C | GRCh38 |
| NC_000009.11:g.137734972T>C , CM000671.1:g.137734972T>C | GRCh37 |
| NC_000009.10:g.136874793T>C | NCBI36 |
| NG_008030.1:g.206321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*823T>C | ENSP00000360885.4:n.*823T>C | |
| ENST00000371817.8:c.*823T>C MANE Select | ENSP00000360882.3:n.*823T>C | |
| ENST00000371817.7:c.*823T>C | ENSP00000360882.3:n.*823T>C | |
| ENST00000618395.4:c.*823T>C | ENSP00000481360.1:n.*823T>C | |
| NM_000093.4:c.*823T>C | NP_000084.3:n.*823T>C | |
| NM_001278074.1:c.*823T>C | NP_001265003.1:n.*823T>C | |
| NR_103451.2:n.71-22917A>G | ||
| NM_000093.5:c.*823T>C MANE Select | NP_000084.3:n.*823T>C |