Linked Data
ClinVar Variation Id:
426512
ClinVar RCV Id:
RCV000489877
dbSNP Id:
rs781096873
gnomAD v4:
14-56801865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56801865C>T , CM000676.2:g.56801865C>T | GRCh38 |
| NC_000014.8:g.57268583C>T , CM000676.1:g.57268583C>T | GRCh37 |
| NC_000014.7:g.56338336C>T | NCBI36 |
| NG_008204.1:g.13602G>A | |
| NG_008204.2:g.19829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.764G>A | ENSP00000451357.2:p.Ser255Asn | |
| ENST00000555804.2:c.740G>A | ENSP00000451272.2:p.Ser247Asn | |
| ENST00000685244.1:c.740G>A | ENSP00000508798.1:p.Ser247Asn | |
| ENST00000339475.10:c.740G>A | ENSP00000343819.5:p.Ser247Asn | |
| ENST00000408990.8:c.740G>A | ENSP00000386185.3:p.Ser247Asn | |
| ENST00000672125.1:c.377G>A | ENSP00000500744.1:p.Ser126Asn | |
| ENST00000672264.2:c.764G>A MANE Select | ENSP00000500115.1:p.Ser255Asn | |
| ENST00000673035.1:c.740G>A | ENSP00000500061.1:p.Ser247Asn | |
| ENST00000673481.1:c.764G>A | ENSP00000500595.1:p.Ser255Asn | |
| ENST00000339475.9:c.764G>A | ENSP00000343819.4:p.Ser255Asn | |
| ENST00000408990.7:c.740G>A | ENSP00000386185.3:p.Ser247Asn | |
| ENST00000554788.5:c.*480G>A | ENSP00000474486.1:n.*480G>A | |
| ENST00000555006.5:c.740G>A | ENSP00000452336.1:p.Ser247Asn | |
| NM_001270523.1:c.740G>A | NP_001257452.1:p.Ser247Asn | |
| NM_001270524.1:c.740G>A | NP_001257453.1:p.Ser247Asn | |
| NM_001270525.1:c.764G>A | NP_001257454.1:p.Ser255Asn | |
| NM_021728.3:c.764G>A | NP_068374.1:p.Ser255Asn | |
| NM_172337.2:c.740G>A | NP_758840.1:p.Ser247Asn | |
| NR_073034.1:n.872G>A | ||
| NR_073036.1:n.795G>A | ||
| NM_001270523.2:c.740G>A | NP_001257452.1:p.Ser247Asn | |
| NM_001270524.2:c.740G>A | NP_001257453.1:p.Ser247Asn | |
| NM_001270525.2:c.764G>A | NP_001257454.1:p.Ser255Asn | |
| NM_021728.4:c.764G>A MANE Select | NP_068374.1:p.Ser255Asn | |
| NM_172337.3:c.740G>A | NP_758840.1:p.Ser247Asn | |
| NR_073034.2:n.875G>A | ||
| NR_073036.2:n.799G>A |