Linked Data
ClinVar Variation Id:
1038255
ClinVar RCV Id:
RCV003770911
dbSNP Id:
rs560325947
ExAC:
5:147510906 G / A
gnomAD v2:
5-147510906-G-A
gnomAD v3:
5-148131343-G-A
gnomAD v4:
5-148131343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131343G>A , CM000667.2:g.148131343G>A | GRCh38 |
| NC_000005.9:g.147510906G>A , CM000667.1:g.147510906G>A | GRCh37 |
| NC_000005.8:g.147491099G>A | NCBI36 |
| NG_009633.1:g.72372G>A , LRG_110:g.72372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.3049G>A MANE Select | ENSP00000256084.7:p.Asp1017Asn | |
| ENST00000256084.7:c.3049G>A | ENSP00000256084.7:p.Asp1017Asn | |
| ENST00000359874.7:c.3139G>A | ENSP00000352936.3:p.Asp1047Asn | |
| NM_001127698.1:c.3139G>A | NP_001121170.1:p.Asp1047Asn | |
| NM_006846.3:c.3049G>A , LRG_110t1:c.3049G>A | NP_006837.2:p.Asp1017Asn | |
| XM_011537550.1:c.3082G>A | XP_011535852.1:p.Asp1028Asn | |
| XM_011537551.1:c.3055G>A | XP_011535853.1:p.Asp1019Asn | |
| XM_011537551.2:c.3055G>A | XP_011535853.1:p.Asp1019Asn | |
| NM_001127698.2:c.3139G>A | NP_001121170.1:p.Asp1047Asn | |
| NM_006846.4:c.3049G>A MANE Select | NP_006837.2:p.Asp1017Asn |