Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837606G>A , CM000685.2:g.154837606G>A | GRCh38 |
| NC_000023.10:g.154065881G>A , CM000685.1:g.154065881G>A | GRCh37 |
| NC_000023.9:g.153719075G>A | NCBI36 |
| NG_011403.1:g.190118C>T | |
| NG_033065.1:g.2057C>T | |
| NG_011403.2:g.190118C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7047C>T MANE Select | NP_000123.1:p.Asp2349= |
| ENST00000360256.9:c.7047C>T MANE Select | ENSP00000353393.4:p.Asp2349= |
| NM_000132.3:c.7047C>T | NP_000123.1:p.Asp2349= |
| NM_019863.2:c.642C>T | NP_063916.1:p.Asp214= |
| NM_019863.3:c.642C>T | NP_063916.1:p.Asp214= |
| ENST00000330287.10:c.642C>T | ENSP00000327895.6:p.Asp214= |
| ENST00000360256.8:c.7047C>T | ENSP00000353393.4:p.Asp2349= |
| ENST00000644698.1:c.780C>T | ENSP00000495706.1:p.Asp260= |
| XM_011531126.1:c.6942C>T | XP_011529428.1:p.Asp2314= |