Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170268437G>C , CM000667.2:g.170268437G>C | GRCh38 |
| NC_000005.9:g.169695441G>C , CM000667.1:g.169695441G>C | GRCh37 |
| NC_000005.8:g.169628019G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005565.5:c.569C>G MANE Select | NP_005556.1:p.Pro190Arg |
| ENST00000046794.10:c.569C>G MANE Select | ENSP00000046794.5:p.Pro190Arg |
| NM_005565.3:c.569C>G | NP_005556.1:p.Pro190Arg |
| NM_005565.4:c.569C>G | NP_005556.1:p.Pro190Arg |
| ENST00000046794.9:c.569C>G | ENSP00000046794.5:p.Pro190Arg |
| ENST00000628092.2:c.569C>G | ENSP00000487460.1:p.Pro190Arg |
| XM_011534558.1:c.338C>G | XP_011532860.1:p.Pro113Arg |