Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697393T>C , CM000684.2:g.50697393T>C | GRCh38 |
| NC_000022.10:g.51135821T>C , CM000684.1:g.51135821T>C | GRCh37 |
| NC_000022.9:g.49482687T>C | NCBI36 |
| NG_008607.2:g.27752T>C | |
| NG_070230.1:g.32971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-171T>C | ENSP00000489147.2:n.948-171T>C | |
| ENST00000414786.7:n.1532-171T>C | ||
| ENST00000673971.2:c.1305-171T>C | ENSP00000501192.1:n.1305-171T>C | |
| ENST00000262795.6:c.948-171T>C | ENSP00000489147.2:n.948-171T>C | |
| ENST00000673971.1:c.1305-171T>C | ENSP00000501192.1:n.1305-171T>C | |
| ENST00000262795.5:c.1344+126T>C | ENSP00000489147.1:n.1344+126T>C | |
| ENST00000414786.6:n.1532-171T>C | ||
| ENST00000445220.5:c.1326-171T>C | ENSP00000489407.1:n.1326-171T>C |