Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129433A>G , CM000664.2:g.208129433A>G | GRCh38 |
| NC_000002.11:g.208994157A>G , CM000664.1:g.208994157A>G | GRCh37 |
| NC_000002.10:g.208702402A>G | NCBI36 |
| NG_008038.1:g.5398T>C | |
| NG_008039.1:g.157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.252+8T>C MANE Select | ENSP00000282141.3:n.252+8T>C | |
| ENST00000282141.3:c.252+8T>C | ENSP00000282141.3:n.252+8T>C | |
| NM_020989.3:c.252+8T>C | NP_066269.1:n.252+8T>C | |
| NR_038437.1:n.98-7623A>G | ||
| XM_011510661.1:c.252+8T>C | XP_011508963.1:n.252+8T>C | |
| XM_011510662.1:c.252+8T>C | XP_011508964.1:n.252+8T>C | |
| XM_011510663.1:c.123+8T>C | XP_011508965.1:n.123+8T>C | |
| NM_020989.4:c.252+8T>C MANE Select | NP_066269.1:n.252+8T>C |