Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231790A>G , CM000667.2:g.55231790A>G | GRCh38 |
| NC_000005.9:g.54527618A>G , CM000667.1:g.54527618A>G | GRCh37 |
| NC_000005.8:g.54563375A>G | NCBI36 |
| NG_034201.1:g.6928T>C | |
| NG_051620.1:g.526T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021147.5:c.638T>C MANE Select | NP_066970.3:p.Leu213Pro |
| ENST00000282572.5:c.638T>C MANE Select | ENSP00000282572.4:p.Leu213Pro |
| NM_021147.4:c.638T>C | NP_066970.3:p.Leu213Pro |
| NR_125346.1:n.1208T>C | |
| NR_125346.2:n.1099T>C | |
| NR_125347.1:n.837T>C | |
| NR_125347.2:n.728T>C | |
| NR_125348.1:n.702T>C | |
| ENST00000282572.4:c.638T>C | ENSP00000282572.4:p.Leu213Pro |
| ENST00000501463.2:c.*618T>C | ENSP00000422485.1:n.*618T>C |