Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177501A>C , CM000668.2:g.32177501A>C | GRCh38 |
| NC_000006.11:g.32145278A>C , CM000668.1:g.32145278A>C | GRCh37 |
| NC_000006.10:g.32253256A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+500T>G | ENSP00000337463.6:n.-10+500T>G | |
| ENST00000395497.5:c.-10+43T>G | ENSP00000378875.1:n.-10+43T>G | |
| NM_032741.4:c.-10+500T>G | NP_116130.2:n.-10+500T>G | |
| XM_011514234.1:c.-10+43T>G | XP_011512536.1:n.-10+43T>G | |
| XM_005248806.2:c.-277T>G | XP_005248863.1:n.-277T>G | |
| NM_032741.5:c.-10+500T>G | NP_116130.2:n.-10+500T>G |