Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113387870A>G , CM000667.2:g.113387870A>G | GRCh38 |
| NC_000005.9:g.112723567A>G , CM000667.1:g.112723567A>G | GRCh37 |
| NC_000005.8:g.112751466A>G | NCBI36 |
| NG_012265.1:g.105961T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001085377.2:c.171-2658T>C MANE Select | NP_001078846.2:n.171-2658T>C |
| ENST00000408903.7:c.171-2658T>C MANE Select | ENSP00000386227.3:n.171-2658T>C |
| NM_001085377.1:c.171-2658T>C | NP_001078846.1:n.171-2658T>C |
| ENST00000408903.6:c.171-2658T>C | ENSP00000386227.3:n.171-2658T>C |
| XM_017009473.1:c.171-2658T>C | XP_016864962.1:n.171-2658T>C |