Linked Data
dbSNP Id:
rs780093
gnomAD v2:
2-27742603-T-C
gnomAD v3:
2-27519736-T-C
gnomAD v4:
2-27519736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27519736T>C , CM000664.2:g.27519736T>C | GRCh38 |
| NC_000002.11:g.27742603T>C , CM000664.1:g.27742603T>C | GRCh37 |
| NC_000002.10:g.27596107T>C | NCBI36 |
| NG_028024.1:g.27898T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264717.7:c.1572+799T>C MANE Select | ENSP00000264717.2:n.1572+799T>C | |
| ENST00000264717.6:c.1572+799T>C | ENSP00000264717.2:n.1572+799T>C | |
| NM_001486.3:c.1572+799T>C | NP_001477.2:n.1572+799T>C | |
| XM_011532761.1:c.1419+799T>C | XP_011531063.1:n.1419+799T>C | |
| XM_011532762.1:c.1002+799T>C | XP_011531064.1:n.1002+799T>C | |
| XM_017003796.1:c.1002+799T>C | XP_016859285.1:n.1002+799T>C | |
| XM_017003797.1:c.1002+799T>C | XP_016859286.1:n.1002+799T>C | |
| NM_001486.4:c.1572+799T>C MANE Select | NP_001477.2:n.1572+799T>C |