Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19548199A>C , CM000673.2:g.19548199A>C | GRCh38 |
| NC_000011.9:g.19569746A>C , CM000673.1:g.19569746A>C | GRCh37 |
| NC_000011.8:g.19526322A>C | NCBI36 |
| NG_030347.1:g.202476A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360655.8:c.75+197172A>C | ENSP00000353871.4:n.75+197172A>C | |
| NM_001111018.1:c.75+197172A>C | NP_001104488.1:n.75+197172A>C | |
| XM_011520452.1:c.75+197172A>C | XP_011518754.1:n.75+197172A>C | |
| XM_011520452.2:c.75+197172A>C | XP_011518754.1:n.75+197172A>C | |
| XM_017018520.2:c.75+197172A>C | XP_016874009.1:n.75+197172A>C | |
| XM_017018522.1:c.75+197172A>C | XP_016874011.1:n.75+197172A>C | |
| XM_024448758.1:c.75+197172A>C | XP_024304526.1:n.75+197172A>C | |
| NM_001111018.2:c.75+197172A>C | NP_001104488.1:n.75+197172A>C |