Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128311329T>G , CM000667.2:g.128311329T>G | GRCh38 |
| NC_000005.9:g.127647021T>G , CM000667.1:g.127647021T>G | GRCh37 |
| NC_000005.8:g.127674920T>G | NCBI36 |
| NG_008750.1:g.231715A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.5045A>C MANE Select | NP_001990.2:p.Tyr1682Ser |
| ENST00000262464.9:c.5045A>C MANE Select | ENSP00000262464.4:p.Tyr1682Ser |
| NM_001999.3:c.5045A>C | NP_001990.2:p.Tyr1682Ser |
| ENST00000262464.8:c.5045A>C | ENSP00000262464.4:p.Tyr1682Ser |
| ENST00000508053.5:c.5045A>C | ENSP00000424571.1:p.Tyr1682Ser |
| ENST00000619499.4:c.5042A>C | ENSP00000482132.1:p.Tyr1681Ser |
| ENST00000703783.1:n.1829A>C | |
| ENST00000703785.1:n.1748A>C | |
| XM_017009228.2:c.4892A>C | XP_016864717.1:p.Tyr1631Ser |