Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177485T>G , CM000668.2:g.32177485T>G | GRCh38 |
| NC_000006.11:g.32145262T>G , CM000668.1:g.32145262T>G | GRCh37 |
| NC_000006.10:g.32253240T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+516A>C | ENSP00000337463.6:n.-10+516A>C | |
| ENST00000395497.5:c.-10+59A>C | ENSP00000378875.1:n.-10+59A>C | |
| NM_032741.4:c.-10+516A>C | NP_116130.2:n.-10+516A>C | |
| XM_011514234.1:c.-10+59A>C | XP_011512536.1:n.-10+59A>C | |
| XM_005248806.2:c.-261A>C | XP_005248863.1:n.-261A>C | |
| NM_032741.5:c.-10+516A>C | NP_116130.2:n.-10+516A>C |