Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69960757C>G , CM000664.2:g.69960757C>G | GRCh38 |
| NC_000002.11:g.70187889C>G , CM000664.1:g.70187889C>G | GRCh37 |
| NC_000002.10:g.70041393C>G | NCBI36 |
| NG_054918.1:g.6509G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152792.4:c.680G>C MANE Select | NP_690005.3:p.Arg227Pro |
| ENST00000320256.6:c.680G>C MANE Select | ENSP00000315383.5:p.Arg227Pro |
| NM_152792.2:c.932G>C | NP_690005.2:p.Arg311Pro |
| NR_170375.1:n.1100+14798G>C | |
| NR_170376.1:n.701-16839G>C | |
| NR_170631.1:n.3223G>C | |
| NR_170632.1:n.3373G>C | |
| NR_170634.1:n.3285G>C | |
| NR_170635.1:n.3538G>C | |
| NR_170636.1:n.4150G>C | |
| NR_170637.1:n.3485G>C | |
| NR_170638.1:n.3628G>C | |
| NR_170639.1:n.3498G>C | |
| ENST00000320256.5:c.932G>C | ENSP00000315383.4:p.Arg311Pro |