Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128288559T>G , CM000667.2:g.128288559T>G | GRCh38 |
| NC_000005.9:g.127624251T>G , CM000667.1:g.127624251T>G | GRCh37 |
| NC_000005.8:g.127652150T>G | NCBI36 |
| NG_008750.1:g.254485A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6638-2A>C MANE Select | NP_001990.2:n.6638-2A>C |
| ENST00000262464.9:c.6638-2A>C MANE Select | ENSP00000262464.4:n.6638-2A>C |
| NM_001999.3:c.6638-2A>C | NP_001990.2:n.6638-2A>C |
| ENST00000262464.8:c.6638-2A>C | ENSP00000262464.4:n.6638-2A>C |
| ENST00000508053.5:c.6638-2A>C | ENSP00000424571.1:n.6638-2A>C |
| ENST00000619499.4:c.6635-2A>C | ENSP00000482132.1:n.6635-2A>C |
| ENST00000703783.1:n.3422-2A>C | |
| ENST00000703785.1:n.3341-2A>C | |
| XM_017009228.2:c.6485-2A>C | XP_016864717.1:n.6485-2A>C |