Linked Data
ClinVar Variation Id:
288894
dbSNP Id:
rs150982073
ExAC:
14:57268706 G / T
gnomAD v2:
14-57268706-G-T
gnomAD v3:
14-56801988-G-T
gnomAD v4:
14-56801988-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56801988G>T , CM000676.2:g.56801988G>T | GRCh38 |
| NC_000014.8:g.57268706G>T , CM000676.1:g.57268706G>T | GRCh37 |
| NC_000014.7:g.56338459G>T | NCBI36 |
| NG_008204.1:g.13479C>A | |
| NG_008204.2:g.19706C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.641C>A | ENSP00000451357.2:p.Thr214Asn | |
| ENST00000555804.2:c.617C>A | ENSP00000451272.2:p.Thr206Asn | |
| ENST00000685244.1:c.617C>A | ENSP00000508798.1:p.Thr206Asn | |
| ENST00000339475.10:c.617C>A | ENSP00000343819.5:p.Thr206Asn | |
| ENST00000408990.8:c.617C>A | ENSP00000386185.3:p.Thr206Asn | |
| ENST00000672125.1:c.361-107C>A | ENSP00000500744.1:n.361-107C>A | |
| ENST00000672264.2:c.641C>A MANE Select | ENSP00000500115.1:p.Thr214Asn | |
| ENST00000673035.1:c.617C>A | ENSP00000500061.1:p.Thr206Asn | |
| ENST00000673481.1:c.641C>A | ENSP00000500595.1:p.Thr214Asn | |
| ENST00000339475.9:c.641C>A | ENSP00000343819.4:p.Thr214Asn | |
| ENST00000408990.7:c.617C>A | ENSP00000386185.3:p.Thr206Asn | |
| ENST00000554788.5:c.*357C>A | ENSP00000474486.1:n.*357C>A | |
| ENST00000554845.1:c.641C>A | ENSP00000451357.1:p.Thr214Asn | |
| ENST00000555006.5:c.617C>A | ENSP00000452336.1:p.Thr206Asn | |
| NM_001270523.1:c.617C>A | NP_001257452.1:p.Thr206Asn | |
| NM_001270524.1:c.617C>A | NP_001257453.1:p.Thr206Asn | |
| NM_001270525.1:c.641C>A | NP_001257454.1:p.Thr214Asn | |
| NM_021728.3:c.641C>A | NP_068374.1:p.Thr214Asn | |
| NM_172337.2:c.617C>A | NP_758840.1:p.Thr206Asn | |
| NR_073034.1:n.749C>A | ||
| NR_073036.1:n.672C>A | ||
| NM_001270523.2:c.617C>A | NP_001257452.1:p.Thr206Asn | |
| NM_001270524.2:c.617C>A | NP_001257453.1:p.Thr206Asn | |
| NM_001270525.2:c.641C>A | NP_001257454.1:p.Thr214Asn | |
| NM_021728.4:c.641C>A MANE Select | NP_068374.1:p.Thr214Asn | |
| NM_172337.3:c.617C>A | NP_758840.1:p.Thr206Asn | |
| NR_073034.2:n.752C>A | ||
| NR_073036.2:n.676C>A |