Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527352T>C , CM000685.2:g.48527352T>C | GRCh38 |
| NC_000023.10:g.48385740T>C , CM000685.1:g.48385740T>C | GRCh37 |
| NC_000023.9:g.48270684T>C | NCBI36 |
| NG_007452.1:g.10577T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.469+67T>C MANE Select | ENSP00000417052.1:n.469+67T>C | |
| ENST00000651615.1:c.469+67T>C | ENSP00000498524.1:n.469+67T>C | |
| ENST00000276096.10:n.427+67T>C | ||
| ENST00000446158.5:c.469+67T>C | ENSP00000390031.1:n.469+67T>C | |
| ENST00000466461.1:n.375T>C | ||
| ENST00000495186.5:c.469+67T>C | ENSP00000417052.1:n.469+67T>C | |
| ENST00000498425.1:n.590+67T>C | ||
| NM_006579.2:c.469+67T>C | NP_006570.1:n.469+67T>C | |
| NM_006579.3:c.469+67T>C MANE Select | NP_006570.1:n.469+67T>C |