Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215037039T>C , CM000664.2:g.215037039T>C | GRCh38 |
| NC_000002.11:g.215901763T>C , CM000664.1:g.215901763T>C | GRCh37 |
| NC_000002.10:g.215610008T>C | NCBI36 |
| NG_007074.1:g.106389A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173076.3:c.899A>G MANE Select | NP_775099.2:p.Tyr300Cys |
| ENST00000272895.12:c.899A>G MANE Select | ENSP00000272895.7:p.Tyr300Cys |
| NM_173076.2:c.899A>G | NP_775099.2:p.Tyr300Cys |
| NR_103740.1:n.1143A>G | |
| NR_103740.2:n.1341A>G | |
| ENST00000272895.11:c.899A>G | ENSP00000272895.7:p.Tyr300Cys |
| XM_011510951.1:c.899A>G | XP_011509253.1:p.Tyr300Cys |
| XM_011510951.2:c.899A>G | XP_011509253.1:p.Tyr300Cys |
| XM_011510952.1:c.899A>G | XP_011509254.1:p.Tyr300Cys |