Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149984686C>T , CM000667.2:g.149984686C>T | GRCh38 |
| NC_000005.9:g.149364249C>T , CM000667.1:g.149364249C>T | GRCh37 |
| NC_000005.8:g.149344442C>T | NCBI36 |
| NG_007147.2:g.25804C>T , LRG_684:g.25804C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.*2873C>T MANE Select | NP_000103.2:n.*2873C>T |
| ENST00000286298.5:c.*2873C>T MANE Select | ENSP00000286298.4:n.*2873C>T |
| NM_000112.3:c.*2873C>T , LRG_684t1:c.*2873C>T | NP_000103.2:n.*2873C>T |
| ENST00000286298.4:c.*2873C>T | ENSP00000286298.4:n.*2873C>T |
| ENST00000503336.1:c.372+6335C>T | ENSP00000426053.1:n.372+6335C>T |
| XM_017009191.2:c.*2770C>T | XP_016864680.1:n.*2770C>T |