dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92975544C>T , CM000673.2:g.92975544C>T | GRCh38 |
| NC_000011.9:g.92708710C>T , CM000673.1:g.92708710C>T | GRCh37 |
| NC_000011.8:g.92348358C>T | NCBI36 |
| NG_028160.1:g.10922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257068.3:c.223+5596C>T MANE Select | ENSP00000257068.2:n.223+5596C>T | |
| ENST00000257068.2:c.223+5596C>T | ENSP00000257068.2:n.223+5596C>T | |
| ENST00000528076.1:c.165+5596C>T | ||
| ENST00000532482.1:c.354+2953C>T | ENSP00000436101.1:n.354+2953C>T | |
| NM_005959.3:c.223+5596C>T | NP_005950.1:n.223+5596C>T | |
| XM_011542839.1:c.223+5596C>T | XP_011541141.1:n.223+5596C>T | |
| XM_011542839.2:c.223+5596C>T | XP_011541141.1:n.223+5596C>T | |
| NM_005959.5:c.223+5596C>T MANE Select | NP_005950.1:n.223+5596C>T |