Linked Data
dbSNP Id:
rs759392806
ExAC:
14:77772718 C / T
gnomAD v2:
14-77772718-C-T
gnomAD v4:
14-77306375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306375C>T , CM000676.2:g.77306375C>T | GRCh38 |
| NC_000014.8:g.77772718C>T , CM000676.1:g.77772718C>T | GRCh37 |
| NC_000014.7:g.76842471C>T | NCBI36 |
| NG_008897.1:g.19508G>A , LRG_844:g.19508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.129G>A | ||
| ENST00000556394.2:c.249-1575G>A | ENSP00000451967.2:n.249-1575G>A | |
| ENST00000556880.6:n.333G>A | ||
| ENST00000682247.1:c.400G>A | ENSP00000507213.1:p.Asp134Asn | |
| ENST00000682382.1:c.348G>A | ||
| ENST00000682395.1:n.129G>A | ||
| ENST00000682459.1:n.102+27G>A | ||
| ENST00000682467.1:c.400G>A | ENSP00000508062.1:p.Asp134Asn | |
| ENST00000682795.1:c.400G>A | ENSP00000507574.1:p.Asp134Asn | |
| ENST00000682895.1:n.116G>A | ||
| ENST00000682955.1:n.102+27G>A | ||
| ENST00000683188.1:c.195G>A | ||
| ENST00000683380.1:n.102+27G>A | ||
| ENST00000683828.1:c.269G>A | ||
| ENST00000684066.1:n.95G>A | ||
| ENST00000684102.1:n.146G>A | ||
| ENST00000684259.1:n.251G>A | ||
| ENST00000684479.1:n.67G>A | ||
| ENST00000684549.1:n.129G>A | ||
| ENST00000684600.1:c.214G>A | ||
| ENST00000684670.1:n.67G>A | ||
| ENST00000684746.1:n.97G>A | ||
| ENST00000261534.9:c.400G>A MANE Select | ENSP00000261534.4:p.Asp134Asn | |
| ENST00000261534.8:c.400G>A | ENSP00000261534.4:p.Asp134Asn | |
| ENST00000452340.7:n.423G>A | ||
| ENST00000553863.5:n.102+27G>A | ||
| ENST00000554948.1:c.127G>A | ENSP00000452060.1:p.Asp43Asn | |
| ENST00000555675.5:n.116G>A | ||
| ENST00000555788.5:n.234G>A | ||
| ENST00000556326.5:c.*66G>A | ENSP00000450630.1:n.*66G>A | |
| ENST00000556880.5:n.333G>A | ||
| ENST00000557525.1:n.490G>A | ||
| NM_013382.5:c.400G>A , LRG_844t1:c.400G>A | NP_037514.2:p.Asp134Asn | |
| XM_011536675.1:c.400G>A | XP_011534977.1:p.Asp134Asn | |
| XM_011536676.1:c.67G>A | XP_011534978.1:p.Asp23Asn | |
| XM_011536677.1:c.400G>A | XP_011534979.1:p.Asp134Asn | |
| XM_011536678.1:c.400G>A | XP_011534980.1:p.Asp134Asn | |
| XM_011536680.1:c.400G>A | XP_011534982.1:p.Asp134Asn | |
| XR_943416.1:n.603G>A | ||
| XM_011536675.2:c.400G>A | XP_011534977.1:p.Asp134Asn | |
| XM_011536676.2:c.67G>A | XP_011534978.1:p.Asp23Asn | |
| XM_011536677.3:c.400G>A | XP_011534979.1:p.Asp134Asn | |
| XR_001750279.1:n.600G>A | ||
| XR_001750282.1:n.604G>A | ||
| XR_943416.3:n.601G>A | ||
| NM_013382.6:c.400G>A | NP_037514.2:p.Asp134Asn | |
| NM_013382.7:c.400G>A MANE Select | NP_037514.2:p.Asp134Asn |