Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55053079C>T , CM000663.2:g.55053079C>T | GRCh38 |
| NC_000001.10:g.55518752C>T , CM000663.1:g.55518752C>T | GRCh37 |
| NC_000001.9:g.55291340C>T | NCBI36 |
| NG_009061.1:g.18533C>T , LRG_275:g.18533C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.799+288C>T MANE Select | NP_777596.2:n.799+288C>T |
| ENST00000302118.5:c.799+288C>T MANE Select | ENSP00000303208.5:n.799+288C>T |
| NM_174936.3:c.799+288C>T , LRG_275t1:c.799+288C>T | NP_777596.2:n.799+288C>T |
| NR_110451.1:n.458+288C>T | |
| NR_110451.2:n.458+288C>T | |
| ENST00000490692.1:n.1620+288C>T | |
| ENST00000673903.1:c.424+288C>T | ENSP00000501257.1:n.424+288C>T |
| ENST00000673913.2:c.799+288C>T | ENSP00000501161.2:n.799+288C>T |
| ENST00000710286.1:c.1156+288C>T | ENSP00000518176.1:n.1156+288C>T |