Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45405251G>C , CM000683.2:g.45405251G>C | GRCh38 |
| NC_000021.8:g.46825166G>C , CM000683.1:g.46825166G>C | GRCh37 |
| NC_000021.7:g.45649594G>C | NCBI36 |
| NG_011903.1:g.5070G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379500.1:c.11+10G>C (COL18A1) MANE Select | NP_001366429.1:n.11+10G>C |
| ENST00000651438.1:c.11+10G>C (COL18A1) MANE Select | ENSP00000498485.1:n.11+10G>C |
| NM_130445.3:c.11+10G>C (COL18A1) | NP_569712.2:n.11+10G>C |
| NM_130445.4:c.11+10G>C (COL18A1) | NP_569712.2:n.11+10G>C |
| ENST00000400337.6:c.11+10G>C (COL18A1) | ENSP00000383191.2:n.11+10G>C |
| XR_244333.2:n.83+109C>G (BNAT1) |