Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128364686T>C , CM000667.2:g.128364686T>C | GRCh38 |
| NC_000005.9:g.127700379T>C , CM000667.1:g.127700379T>C | GRCh37 |
| NC_000005.8:g.127728278T>C | NCBI36 |
| NG_008750.1:g.178357A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.2342A>G MANE Select | NP_001990.2:p.Asn781Ser |
| ENST00000262464.9:c.2342A>G MANE Select | ENSP00000262464.4:p.Asn781Ser |
| NM_001999.3:c.2342A>G | NP_001990.2:p.Asn781Ser |
| ENST00000262464.8:c.2342A>G | ENSP00000262464.4:p.Asn781Ser |
| ENST00000508053.5:c.2342A>G | ENSP00000424571.1:p.Asn781Ser |
| ENST00000508989.5:c.2243A>G | ENSP00000425596.1:p.Asn748Ser |
| ENST00000619499.4:c.2339A>G | ENSP00000482132.1:p.Asn780Ser |
| XM_017009228.2:c.2189A>G | XP_016864717.1:p.Asn730Ser |