Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837677G>T , CM000685.2:g.154837677G>T | GRCh38 |
| NC_000023.10:g.154065952G>T , CM000685.1:g.154065952G>T | GRCh37 |
| NC_000023.9:g.153719146G>T | NCBI36 |
| NG_011403.1:g.190047C>A | |
| NG_033065.1:g.1986C>A | |
| NG_011403.2:g.190047C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6976C>A MANE Select | NP_000123.1:p.Arg2326= |
| ENST00000360256.9:c.6976C>A MANE Select | ENSP00000353393.4:p.Arg2326= |
| NM_000132.3:c.6976C>A | NP_000123.1:p.Arg2326= |
| NM_019863.2:c.571C>A | NP_063916.1:p.Arg191= |
| NM_019863.3:c.571C>A | NP_063916.1:p.Arg191= |
| ENST00000330287.10:c.571C>A | ENSP00000327895.6:p.Arg191= |
| ENST00000360256.8:c.6976C>A | ENSP00000353393.4:p.Arg2326= |
| ENST00000644698.1:c.709C>A | ENSP00000495706.1:p.Arg237= |
| XM_011531126.1:c.6871C>A | XP_011529428.1:p.Arg2291= |