Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8553999T>C , CM000685.2:g.8553999T>C | GRCh38 |
| NC_000023.10:g.8522040T>C , CM000685.1:g.8522040T>C | GRCh37 |
| NC_000023.9:g.8482040T>C | NCBI36 |
| NG_007088.1:g.183188A>G | |
| NG_007088.2:g.183188A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1307A>G MANE Select | NP_000207.2:p.Tyr436Cys |
| ENST00000262648.8:c.1307A>G MANE Select | ENSP00000262648.3:p.Tyr436Cys |
| NM_000216.2:c.1307A>G | NP_000207.2:p.Tyr436Cys |
| NM_000216.3:c.1307A>G | NP_000207.2:p.Tyr436Cys |
| ENST00000262648.7:c.1307A>G | ENSP00000262648.3:p.Tyr436Cys |
| ENST00000619786.1:c.1304A>G | ENSP00000478734.1:p.Tyr435Cys |