Linked Data
dbSNP Id:
rs777752533
ExAC:
5:136974759 C / T
gnomAD v2:
5-136974759-C-T
gnomAD v4:
5-137639070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639070C>T , CM000667.2:g.137639070C>T | GRCh38 |
| NC_000005.9:g.136974759C>T , CM000667.1:g.136974759C>T | GRCh37 |
| NC_000005.8:g.137002658C>T | NCBI36 |
| NG_032569.1:g.102021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1102G>A MANE Select | ENSP00000312397.4:p.Asp368Asn | |
| ENST00000309755.8:c.1102G>A | ENSP00000312397.4:p.Asp368Asn | |
| ENST00000502381.1:n.689G>A | ||
| ENST00000504208.5:c.*335-10633G>A | ENSP00000423585.1:n.*335-10633G>A | |
| ENST00000505853.1:c.982G>A | ENSP00000426173.1:p.Asp328Asn | |
| ENST00000506491.5:c.856G>A | ENSP00000424828.1:p.Asp286Asn | |
| ENST00000506873.5:n.727G>A | ||
| ENST00000508657.5:c.1006G>A | ENSP00000422099.1:p.Asp336Asn | |
| NM_001257194.1:c.1006G>A | NP_001244123.1:p.Asp336Asn | |
| NM_001257195.1:c.856G>A | NP_001244124.1:p.Asp286Asn | |
| NM_017415.2:c.1102G>A | NP_059111.2:p.Asp368Asn | |
| NM_017415.3:c.1102G>A MANE Select | NP_059111.2:p.Asp368Asn | |
| NM_001257195.2:c.856G>A | NP_001244124.1:p.Asp286Asn |