Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146351738A>T , CM000669.2:g.146351738A>T | GRCh38 |
| NC_000007.13:g.146048830A>T , CM000669.1:g.146048830A>T | GRCh37 |
| NC_000007.12:g.145679763A>T | NCBI36 |
| NG_007092.2:g.240378A>T | |
| NG_007092.3:g.240738A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.97+234765A>T MANE Select | ENSP00000354778.3:n.97+234765A>T | |
| ENST00000637150.1:n.26+234765A>T | ||
| ENST00000361727.7:c.97+234765A>T | ENSP00000354778.3:n.97+234765A>T | |
| ENST00000625365.2:c.97+234765A>T | ENSP00000485955.1:n.97+234765A>T | |
| NM_014141.5:c.97+234765A>T | NP_054860.1:n.97+234765A>T | |
| XM_017011950.2:c.97+234765A>T | XP_016867439.1:n.97+234765A>T | |
| NM_014141.6:c.97+234765A>T MANE Select | NP_054860.1:n.97+234765A>T |