Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.373865C>G , CM000678.2:g.373865C>G | GRCh38 |
| NC_000016.9:g.423865C>G , CM000678.1:g.423865C>G | GRCh37 |
| NC_000016.8:g.363866C>G | NCBI36 |
| NG_052909.1:g.1705G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021259.3:c.1902+140G>C MANE Select | NP_067082.2:n.1902+140G>C |
| ENST00000431232.7:c.1902+140G>C MANE Select | ENSP00000401338.2:n.1902+140G>C |
| NM_021259.2:c.1902+140G>C | NP_067082.2:n.1902+140G>C |
| ENST00000250930.7:c.1323+140G>C | ENSP00000250930.3:n.1323+140G>C |
| ENST00000424078.5:c.422+140G>C | |
| ENST00000431232.6:c.1902+140G>C | ENSP00000401338.2:n.1902+140G>C |
| ENST00000448854.1:c.546+140G>C | ENSP00000401931.1:n.546+140G>C |
| XM_024450366.1:c.1971+140G>C | XP_024306134.1:n.1971+140G>C |