Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987302C>T , CM000685.2:g.154987302C>T | GRCh38 |
| NC_000023.10:g.154215577C>T , CM000685.1:g.154215577C>T | GRCh37 |
| NC_000023.9:g.153868771C>T | NCBI36 |
| NG_011403.1:g.40422G>A | |
| NG_011403.2:g.40422G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.605G>A MANE Select | NP_000123.1:p.Ser202Asn |
| ENST00000360256.9:c.605G>A MANE Select | ENSP00000353393.4:p.Ser202Asn |
| NM_000132.3:c.605G>A | NP_000123.1:p.Ser202Asn |
| ENST00000360256.8:c.605G>A | ENSP00000353393.4:p.Ser202Asn |
| ENST00000423959.5:c.500G>A | ENSP00000409446.1:p.Ser167Asn |
| ENST00000647125.1:c.*391G>A | ENSP00000496062.1:n.*391G>A |
| XM_011531126.1:c.500G>A | XP_011529428.1:p.Ser167Asn |