Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022410C>T , CM000685.2:g.155022410C>T | GRCh38 |
| NC_000023.10:g.154250685C>T , CM000685.1:g.154250685C>T | GRCh37 |
| NC_000023.9:g.153903879C>T | NCBI36 |
| NG_011403.1:g.5314G>A | |
| NG_011403.2:g.5314G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.143G>A MANE Select | NP_000123.1:p.Arg48Lys |
| ENST00000360256.9:c.143G>A MANE Select | ENSP00000353393.4:p.Arg48Lys |
| NM_000132.3:c.143G>A | NP_000123.1:p.Arg48Lys |
| ENST00000360256.8:c.143G>A | ENSP00000353393.4:p.Arg48Lys |
| ENST00000423959.5:c.38+4370G>A | ENSP00000409446.1:n.38+4370G>A |
| ENST00000453950.1:c.125G>A | ENSP00000389153.1:p.Arg42Lys |
| ENST00000647125.1:c.121+22G>A | ENSP00000496062.1:n.121+22G>A |
| XM_011531126.1:c.38+4370G>A | XP_011529428.1:n.38+4370G>A |