Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45405241G>A , CM000683.2:g.45405241G>A | GRCh38 |
| NC_000021.8:g.46825156G>A , CM000683.1:g.46825156G>A | GRCh37 |
| NC_000021.7:g.45649584G>A | NCBI36 |
| NG_011903.1:g.5060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651438.1:c.11G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Arg4Lys | |
| ENST00000400337.6:c.11G>A (COL18A1) | ENSP00000383191.2:p.Arg4Lys | |
| NM_130445.3:c.11G>A (COL18A1) | NP_569712.2:p.Arg4Lys | |
| XR_244333.2:n.83+119C>T (BNAT1) | ||
| NM_130445.4:c.11G>A (COL18A1) | NP_569712.2:p.Arg4Lys | |
| NM_001379500.1:c.11G>A (COL18A1) MANE Select | NP_001366429.1:p.Arg4Lys |