Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74005844G>C , CM000673.2:g.74005844G>C | GRCh38 |
| NC_000011.9:g.73716889G>C , CM000673.1:g.73716889G>C | GRCh37 |
| NC_000011.8:g.73394537G>C | NCBI36 |
| NG_011515.1:g.8394C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003356.4:c.427C>G MANE Select | NP_003347.1:p.Arg143Gly |
| ENST00000314032.9:c.427C>G MANE Select | ENSP00000323740.4:p.Arg143Gly |
| NM_003356.3:c.427C>G | NP_003347.1:p.Arg143Gly |
| NM_022803.2:c.427C>G | NP_073714.1:p.Arg143Gly |
| NM_022803.3:c.427C>G | NP_073714.1:p.Arg143Gly |
| ENST00000314032.8:c.427C>G | ENSP00000323740.4:p.Arg143Gly |
| ENST00000426995.2:c.427C>G | ENSP00000392143.2:p.Arg143Gly |
| XR_950298.1:n.1768+9810G>C |