Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129321T>C , CM000664.2:g.208129321T>C | GRCh38 |
| NC_000002.11:g.208994045T>C , CM000664.1:g.208994045T>C | GRCh37 |
| NC_000002.10:g.208702290T>C | NCBI36 |
| NG_008038.1:g.5510A>G | |
| NG_008039.1:g.269A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020989.4:c.252+120A>G MANE Select | NP_066269.1:n.252+120A>G |
| ENST00000282141.4:c.252+120A>G MANE Select | ENSP00000282141.3:n.252+120A>G |
| NM_020989.3:c.252+120A>G | NP_066269.1:n.252+120A>G |
| NR_038437.1:n.98-7735T>C | |
| ENST00000282141.3:c.252+120A>G | ENSP00000282141.3:n.252+120A>G |
| XM_011510661.1:c.252+120A>G | XP_011508963.1:n.252+120A>G |
| XM_011510662.1:c.252+120A>G | XP_011508964.1:n.252+120A>G |
| XM_011510663.1:c.123+120A>G | XP_011508965.1:n.123+120A>G |