Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45672076A>G , CM000684.2:g.45672076A>G | GRCh38 |
| NC_000022.10:g.46067956A>G , CM000684.1:g.46067956A>G | GRCh37 |
| NC_000022.9:g.44446620A>G | NCBI36 |
| NG_016212.1:g.5279A>G | |
| NG_016212.2:g.5279A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013236.4:c.13A>G MANE Select | NP_037368.1:p.Arg5Gly |
| ENST00000252934.10:c.13A>G MANE Select | ENSP00000252934.4:p.Arg5Gly |
| NM_001167621.1:c.13A>G | NP_001161093.1:p.Arg5Gly |
| NM_001167621.2:c.13A>G | NP_001161093.1:p.Arg5Gly |
| NM_013236.3:c.13A>G | NP_037368.1:p.Arg5Gly |
| ENST00000252934.9:c.13A>G | ENSP00000252934.4:p.Arg5Gly |
| ENST00000381061.8:c.13A>G | ENSP00000370449.4:p.Arg5Gly |
| ENST00000640901.1:c.13A>G | ENSP00000491659.1:p.Arg5Gly |