Linked Data
dbSNP Id:
rs149871432
ExAC:
1:236882253 A / G
gnomAD v2:
1-236882253-A-G
gnomAD v4:
1-236718953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236718953A>G , CM000663.2:g.236718953A>G | GRCh38 |
| NC_000001.10:g.236882253A>G , CM000663.1:g.236882253A>G | GRCh37 |
| NC_000001.9:g.234948876A>G | NCBI36 |
| NG_009081.1:g.37484A>G | |
| NG_009081.2:g.59813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.301A>G | ENSP00000443495.1:p.Asn101Asp | |
| ENST00000492634.7:n.396A>G | ||
| ENST00000494762.2:n.50A>G | ||
| ENST00000682015.1:c.301A>G | ENSP00000506961.1:p.Asn101Asp | |
| ENST00000682692.1:n.301A>G | ||
| ENST00000682966.1:n.300A>G | ||
| ENST00000683075.1:n.240A>G | ||
| ENST00000683111.1:c.244A>G | ENSP00000507913.1:p.Asn82Asp | |
| ENST00000684050.1:n.336A>G | ||
| ENST00000684286.1:n.369A>G | ||
| ENST00000684502.1:n.336A>G | ||
| ENST00000366578.6:c.301A>G MANE Select | ENSP00000355537.4:p.Asn101Asp | |
| ENST00000492634.6:n.396A>G | ||
| ENST00000542672.6:c.301A>G | ENSP00000443495.1:p.Asn101Asp | |
| ENST00000651091.1:c.244A>G | ENSP00000498677.1:p.Asn82Asp | |
| ENST00000651187.1:c.85A>G | ENSP00000498348.1:p.Asn29Asp | |
| ENST00000651275.1:c.286A>G | ENSP00000498926.1:p.Asn96Asp | |
| ENST00000651786.1:c.301A>G | ENSP00000498364.1:p.Asn101Asp | |
| ENST00000652096.1:c.301A>G | ENSP00000498896.1:p.Asn101Asp | |
| ENST00000366578.5:c.301A>G | ENSP00000355537.4:p.Asn101Asp | |
| ENST00000492634.5:n.448A>G | ||
| ENST00000542672.5:c.301A>G | ENSP00000443495.1:p.Asn101Asp | |
| ENST00000546208.5:c.-521A>G | ENSP00000438384.2:n.-521A>G | |
| NM_001103.3:c.301A>G | NP_001094.1:p.Asn101Asp | |
| NM_001278343.1:c.301A>G | NP_001265272.1:p.Asn101Asp | |
| NM_001278344.1:c.-521A>G | NP_001265273.1:n.-521A>G | |
| NM_001278343.2:c.301A>G | NP_001265272.1:p.Asn101Asp | |
| NM_001103.4:c.301A>G MANE Select | NP_001094.1:p.Asn101Asp | |
| NM_001278344.2:c.-521A>G | NP_001265273.1:n.-521A>G |