Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194596A>G , CM000666.2:g.186194596A>G | GRCh38 |
| NC_000004.11:g.187115750A>G , CM000666.1:g.187115750A>G | GRCh37 |
| NC_000004.10:g.187352744A>G | NCBI36 |
| NG_007965.1:g.8077A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.311A>G MANE Select | ENSP00000368079.4:p.Asn104Ser | |
| ENST00000378802.4:c.311A>G | ENSP00000368079.4:p.Asn104Ser | |
| NM_207352.3:c.311A>G | NP_997235.3:p.Asn104Ser | |
| XM_005262935.2:c.311A>G | XP_005262992.1:p.Asn104Ser | |
| XM_006714184.2:c.1A>G | XP_006714247.1:p.Met1Val | |
| XM_005262935.4:c.311A>G | XP_005262992.1:p.Asn104Ser | |
| XM_017008037.1:c.1A>G | XP_016863526.1:p.Met1Val | |
| NM_207352.4:c.311A>G MANE Select | NP_997235.3:p.Asn104Ser |