Linked Data
dbSNP Id:
rs3783782
gnomAD v2:
14-61940675-G-A
gnomAD v3:
14-61473957-G-A
gnomAD v4:
14-61473957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61473957G>A , CM000676.2:g.61473957G>A | GRCh38 |
| NC_000014.8:g.61940675G>A , CM000676.1:g.61940675G>A | GRCh37 |
| NC_000014.7:g.61010428G>A | NCBI36 |
| NG_011514.1:g.157161G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332981.11:c.1279-11545G>A MANE Select | ENSP00000329127.5:n.1279-11545G>A | |
| ENST00000332981.10:c.1279-11545G>A | ENSP00000329127.5:n.1279-11545G>A | |
| ENST00000332981.9:c.1279-11545G>A | ENSP00000329127.5:n.1279-11545G>A | |
| ENST00000555082.5:c.796-11545G>A | ENSP00000450981.1:n.796-11545G>A | |
| ENST00000555185.5:c.-18-11545G>A | ENSP00000451871.1:n.-18-11545G>A | |
| ENST00000555233.5:n.292+10597G>A | ||
| ENST00000555604.1:n.175-2373G>A | ||
| NM_006255.4:c.1279-11545G>A | NP_006246.2:n.1279-11545G>A | |
| XM_011536954.1:c.1042-11545G>A | XP_011535256.1:n.1042-11545G>A | |
| XM_011536955.1:c.1039-11545G>A | XP_011535257.1:n.1039-11545G>A | |
| XM_011536956.1:c.1279-11545G>A | XP_011535258.1:n.1279-11545G>A | |
| XM_011536957.1:c.1279-11545G>A | XP_011535259.1:n.1279-11545G>A | |
| XM_011536954.3:c.1042-11545G>A | XP_011535256.1:n.1042-11545G>A | |
| XM_017021458.1:c.796-11545G>A | XP_016876947.1:n.796-11545G>A | |
| XM_024449661.1:c.796-11545G>A | XP_024305429.1:n.796-11545G>A | |
| XM_024449662.1:c.796-11545G>A | XP_024305430.1:n.796-11545G>A | |
| NM_006255.5:c.1279-11545G>A MANE Select | NP_006246.2:n.1279-11545G>A |