Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206559981G>C , CM000664.2:g.206559981G>C | GRCh38 |
| NC_000002.11:g.207424705G>C , CM000664.1:g.207424705G>C | GRCh37 |
| NC_000002.10:g.207132950G>C | NCBI36 |
| NG_029874.2:g.121338G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264377.8:c.1032G>C MANE Select | ENSP00000264377.3:p.Arg344Ser | |
| ENST00000264377.7:c.1032G>C | ENSP00000264377.3:p.Arg344Ser | |
| ENST00000374415.7:c.1032G>C | ENSP00000363536.3:p.Arg344Ser | |
| NM_003812.3:c.1032G>C | NP_003803.1:p.Arg344Ser | |
| XM_005246932.2:c.1032G>C | XP_005246989.1:p.Arg344Ser | |
| XM_011512086.1:c.1032G>C | XP_011510388.1:p.Arg344Ser | |
| XM_005246932.3:c.1032G>C | XP_005246989.1:p.Arg344Ser | |
| XM_011512086.2:c.1032G>C | XP_011510388.1:p.Arg344Ser | |
| NM_003812.4:c.1032G>C MANE Select | NP_003803.1:p.Arg344Ser |