Linked Data
ClinVar Variation Id:
426801
dbSNP Id:
rs1085307806
gnomAD v3:
6-35505790-C-T
gnomAD v4:
6-35505790-C-T
COSMIC:
COSM5692995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35505790C>T , CM000668.2:g.35505790C>T | GRCh38 |
| NC_000006.11:g.35473567C>T , CM000668.1:g.35473567C>T | GRCh37 |
| NC_000006.10:g.35581545C>T | NCBI36 |
| NG_009077.1:g.12081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1063G>A MANE Select | ENSP00000229771.6:p.Asp355Asn | |
| ENST00000229771.10:c.1063G>A | ENSP00000229771.6:p.Asp355Asn | |
| ENST00000322263.8:c.904G>A | ENSP00000319414.4:p.Asp302Asn | |
| ENST00000373892.4:n.665G>A | ||
| ENST00000496434.5:n.80G>A | ||
| ENST00000614066.4:c.1057G>A | ENSP00000477534.1:p.Asp353Asn | |
| NM_001289395.1:c.904G>A | NP_001276324.1:p.Asp302Asn | |
| NM_003322.4:c.1063G>A | NP_003313.3:p.Asp355Asn | |
| NM_003322.5:c.1063G>A | NP_003313.3:p.Asp355Asn | |
| NM_003322.6:c.1063G>A MANE Select | NP_003313.3:p.Asp355Asn | |
| NM_001289395.2:c.904G>A | NP_001276324.1:p.Asp302Asn |