Linked Data
ClinVar Variation Id:
1918552
ClinVar RCV Id:
RCV002602025
dbSNP Id:
rs754851412
ExAC:
2:136575327 C / T
gnomAD v2:
2-136575327-C-T
gnomAD v3:
2-135817757-C-T
gnomAD v4:
2-135817757-C-T
COSMIC:
COSM3961182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817757C>T , CM000664.2:g.135817757C>T | GRCh38 |
| NC_000002.11:g.136575327C>T , CM000664.1:g.136575327C>T | GRCh37 |
| NC_000002.10:g.136291797C>T | NCBI36 |
| NG_008104.2:g.42413G>A , LRG_338:g.42413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1291G>A MANE Select | ENSP00000264162.2:p.Asp431Asn | |
| ENST00000264162.6:c.1291G>A | ENSP00000264162.2:p.Asp431Asn | |
| NM_002299.2:c.1291G>A , LRG_338t1:c.1291G>A | NP_002290.2:p.Asp431Asn | |
| NM_002299.3:c.1291G>A | NP_002290.2:p.Asp431Asn | |
| XM_017004088.2:c.1291G>A | XP_016859577.1:p.Asp431Asn | |
| NM_002299.4:c.1291G>A MANE Select | NP_002290.2:p.Asp431Asn |