Linked Data
dbSNP Id:
rs3783799
gnomAD v2:
14-61919216-C-T
gnomAD v3:
14-61452498-C-T
gnomAD v4:
14-61452498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61452498C>T , CM000676.2:g.61452498C>T | GRCh38 |
| NC_000014.8:g.61919216C>T , CM000676.1:g.61919216C>T | GRCh37 |
| NC_000014.7:g.60988969C>T | NCBI36 |
| NG_011514.1:g.135702C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332981.11:c.833-728C>T MANE Select | ENSP00000329127.5:n.833-728C>T | |
| ENST00000332981.10:c.833-728C>T | ENSP00000329127.5:n.833-728C>T | |
| ENST00000332981.9:c.833-728C>T | ENSP00000329127.5:n.833-728C>T | |
| ENST00000553726.5:c.26-728C>T | ENSP00000451793.1:n.26-728C>T | |
| ENST00000555082.5:c.350-728C>T | ENSP00000450981.1:n.350-728C>T | |
| ENST00000555185.5:c.-18-33004C>T | ENSP00000451871.1:n.-18-33004C>T | |
| ENST00000556778.5:c.350-728C>T | ENSP00000452055.1:n.350-728C>T | |
| ENST00000557585.5:c.350-728C>T | ENSP00000451930.1:n.350-728C>T | |
| NM_006255.4:c.833-728C>T | NP_006246.2:n.833-728C>T | |
| XM_011536954.1:c.596-728C>T | XP_011535256.1:n.596-728C>T | |
| XM_011536955.1:c.593-728C>T | XP_011535257.1:n.593-728C>T | |
| XM_011536956.1:c.833-728C>T | XP_011535258.1:n.833-728C>T | |
| XM_011536957.1:c.833-728C>T | XP_011535259.1:n.833-728C>T | |
| XM_011536954.3:c.596-728C>T | XP_011535256.1:n.596-728C>T | |
| XM_017021458.1:c.350-728C>T | XP_016876947.1:n.350-728C>T | |
| XM_017021459.1:c.833-728C>T | XP_016876948.1:n.833-728C>T | |
| XM_024449661.1:c.350-728C>T | XP_024305429.1:n.350-728C>T | |
| XM_024449662.1:c.350-728C>T | XP_024305430.1:n.350-728C>T | |
| NM_006255.5:c.833-728C>T MANE Select | NP_006246.2:n.833-728C>T |