Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18661626T>C , CM000672.2:g.18661626T>C | GRCh38 |
| NC_000010.10:g.18950555T>C , CM000672.1:g.18950555T>C | GRCh37 |
| NC_000010.9:g.18990561T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178815.5:c.46+1943T>C MANE Select | NP_848930.1:n.46+1943T>C |
| ENST00000377275.4:c.46+1943T>C MANE Select | ENSP00000366487.3:n.46+1943T>C |
| NM_178815.3:c.46+1943T>C | NP_848930.1:n.46+1943T>C |
| NM_178815.4:c.46+1943T>C | NP_848930.1:n.46+1943T>C |
| ENST00000377275.3:c.46+1943T>C | ENSP00000366487.3:n.46+1943T>C |
| XM_005252400.1:c.46+1943T>C | XP_005252457.1:n.46+1943T>C |
| XM_005252401.3:c.-66+1734T>C | XP_005252458.1:n.-66+1734T>C |
| XM_005252401.4:c.-66+1734T>C | XP_005252458.1:n.-66+1734T>C |