Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219069626G>A , CM000664.2:g.219069626G>A | GRCh38 |
| NC_000002.11:g.219934348G>A , CM000664.1:g.219934348G>A | GRCh37 |
| NC_000002.10:g.219642592G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024782.3:c.*6755C>T MANE Select | NP_079058.1:n.*6755C>T |
| ENST00000356853.10:c.*6755C>T MANE Select | ENSP00000349313.5:n.*6755C>T |
| NM_001377498.1:c.*6755C>T | NP_001364427.1:n.*6755C>T |
| NM_001377499.1:c.*6755C>T | NP_001364428.1:n.*6755C>T |
| NR_165304.1:n.7833C>T | |
| ENST00000698174.1:c.*2393C>T | ENSP00000513594.1:n.*2393C>T |
| ENST00000698202.1:c.*2068C>T | ENSP00000513605.1:n.*2068C>T |
| ENST00000698203.1:c.*2068C>T | ENSP00000513606.1:n.*2068C>T |
| ENST00000698210.1:n.1114C>T |