Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1334175G>C , CM000663.2:g.1334175G>C | GRCh38 |
| NC_000001.10:g.1269555G>C , CM000663.1:g.1269555G>C | GRCh37 |
| NC_000001.9:g.1259418G>C | NCBI36 |
| NG_008048.1:g.19938C>G | |
| NG_008048.2:g.19938C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152228.3:c.2270G>C MANE Select | NP_689414.2:p.Cys757Ser |
| ENST00000339381.6:c.2270G>C MANE Select | ENSP00000344411.5:p.Cys757Ser |
| NM_152228.1:c.2270G>C | NP_689414.1:p.Arg757Pro |
| NM_152228.2:c.2270G>C | NP_689414.1:p.Arg757Pro |
| ENST00000339381.5:c.2270G>C | ENSP00000344411.5:p.Cys757Ser |
| XM_011542239.1:c.2267G>C | XP_011540541.1:p.Cys756Ser |
| XM_017002435.1:c.2396G>C | XP_016857924.1:p.Cys799Ser |
| XM_017002436.1:c.2393G>C | XP_016857925.1:p.Cys798Ser |