Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19547866C>T , CM000673.2:g.19547866C>T | GRCh38 |
| NC_000011.9:g.19569413C>T , CM000673.1:g.19569413C>T | GRCh37 |
| NC_000011.8:g.19525989C>T | NCBI36 |
| NG_030347.1:g.202143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360655.8:c.75+196839C>T | ENSP00000353871.4:n.75+196839C>T | |
| NM_001111018.1:c.75+196839C>T | NP_001104488.1:n.75+196839C>T | |
| XM_011520452.1:c.75+196839C>T | XP_011518754.1:n.75+196839C>T | |
| XM_011520452.2:c.75+196839C>T | XP_011518754.1:n.75+196839C>T | |
| XM_017018520.2:c.75+196839C>T | XP_016874009.1:n.75+196839C>T | |
| XM_017018522.1:c.75+196839C>T | XP_016874011.1:n.75+196839C>T | |
| XM_024448758.1:c.75+196839C>T | XP_024304526.1:n.75+196839C>T | |
| NM_001111018.2:c.75+196839C>T | NP_001104488.1:n.75+196839C>T |