Linked Data
dbSNP Id:
rs755081260
ExAC:
15:28386947 C / T
gnomAD v2:
15-28386947-C-T
gnomAD v4:
15-28141801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141801C>T , CM000677.2:g.28141801C>T | GRCh38 |
| NC_000015.9:g.28386947C>T , CM000677.1:g.28386947C>T | GRCh37 |
| NC_000015.8:g.26060542C>T | NCBI36 |
| NG_016355.1:g.185349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11746G>A MANE Select | ENSP00000261609.8:p.Asp3916Asn | |
| ENST00000650509.1:c.3457G>A | ENSP00000496936.1:p.Asp1153Asn | |
| ENST00000261609.11:c.11746G>A | ENSP00000261609.7:p.Asp3916Asn | |
| ENST00000564519.1:n.261G>A | ||
| NM_004667.5:c.11746G>A | NP_004658.3:p.Asp3916Asn | |
| XM_005268276.3:c.11632G>A | XP_005268333.1:p.Asp3878Asn | |
| XM_005268277.3:c.11632G>A | XP_005268334.1:p.Asp3878Asn | |
| XM_006720726.2:c.11731G>A | XP_006720789.1:p.Asp3911Asn | |
| XM_006720727.2:c.11488G>A | XP_006720790.1:p.Asp3830Asn | |
| XM_011522131.1:c.11263G>A | XP_011520433.1:p.Asp3755Asn | |
| XM_011522132.1:c.9262G>A | XP_011520434.1:p.Asp3088Asn | |
| XM_011522133.1:c.8491G>A | XP_011520435.1:p.Asp2831Asn | |
| XM_011522134.1:c.5863G>A | XP_011520436.1:p.Asp1955Asn | |
| XM_005268276.5:c.11632G>A | XP_005268333.1:p.Asp3878Asn | |
| XM_006720726.3:c.11731G>A | XP_006720789.1:p.Asp3911Asn | |
| XM_006720727.3:c.11488G>A | XP_006720790.1:p.Asp3830Asn | |
| XM_017022695.1:c.11632G>A | XP_016878184.1:p.Asp3878Asn | |
| XM_017022696.1:c.11632G>A | XP_016878185.1:p.Asp3878Asn | |
| XM_017022697.1:c.4912G>A | XP_016878186.1:p.Asp1638Asn | |
| XM_017022698.1:c.4912G>A | XP_016878187.1:p.Asp1638Asn | |
| NM_004667.6:c.11746G>A MANE Select | NP_004658.3:p.Asp3916Asn |