dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2999495A>T , CM000668.2:g.2999495A>T | GRCh38 |
| NC_000006.11:g.2999729A>T , CM000668.1:g.2999729A>T | GRCh37 |
| NC_000006.10:g.2944728A>T | NCBI36 |
| NG_034013.1:g.4680A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380472.7:c.-86+5442A>T | ENSP00000369839.3:n.-86+5442A>T | |
| ENST00000426637.5:c.-86+5442A>T | ENSP00000406951.1:n.-86+5442A>T | |
| XM_011514643.1:c.-600-2555A>T | XP_011512945.1:n.-600-2555A>T | |
| XM_011514644.1:c.-86+5442A>T | XP_011512946.1:n.-86+5442A>T | |
| XM_011514646.1:c.-86+451A>T | XP_011512948.1:n.-86+451A>T |