Linked Data
ClinVar Variation Id:
204821
dbSNP Id:
rs141701364
ExAC:
5:125891694 C / T
gnomAD v2:
5-125891694-C-T
gnomAD v3:
5-126556002-C-T
gnomAD v4:
5-126556002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126556002C>T , CM000667.2:g.126556002C>T | GRCh38 |
| NC_000005.9:g.125891694C>T , CM000667.1:g.125891694C>T | GRCh37 |
| NC_000005.8:g.125919593C>T | NCBI36 |
| NG_008600.2:g.44389G>A | |
| NG_008600.3:g.44389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1022G>A MANE Select | ENSP00000387123.3:p.Ser341Asn | |
| ENST00000458249.6:c.*931G>A | ENSP00000403929.1:n.*931G>A | |
| ENST00000497231.7:n.1449G>A | ||
| ENST00000503281.6:c.611G>A | ||
| ENST00000509459.6:c.531G>A | ||
| ENST00000635851.1:c.1020G>A | ||
| ENST00000636062.1:n.917G>A | ||
| ENST00000636225.1:c.*966G>A | ENSP00000490797.1:n.*966G>A | |
| ENST00000636286.1:n.740G>A | ||
| ENST00000636482.1:n.509G>A | ||
| ENST00000636743.1:c.902G>A | ENSP00000489725.1:p.Ser301Asn | |
| ENST00000636808.1:c.*831G>A | ENSP00000490833.1:n.*831G>A | |
| ENST00000636872.1:c.1182G>A | ENSP00000490919.1:n.1182G>A | |
| ENST00000636879.1:c.1067G>A | ENSP00000490811.1:p.Ser356Asn | |
| ENST00000636886.1:c.821G>A | ENSP00000490371.1:p.Ser274Asn | |
| ENST00000637206.1:c.914-1609G>A | ENSP00000489895.1:n.914-1609G>A | |
| ENST00000637272.1:c.1013G>A | ENSP00000489686.1:p.Ser338Asn | |
| ENST00000637292.1:c.595G>A | ||
| ENST00000637782.1:c.1022G>A | ENSP00000490024.1:p.Ser341Asn | |
| ENST00000637964.1:c.968G>A | ENSP00000490291.1:p.Ser323Asn | |
| ENST00000638008.1:c.*866G>A | ENSP00000490400.1:n.*866G>A | |
| ENST00000409134.7:c.1022G>A | ENSP00000387123.3:p.Ser341Asn | |
| ENST00000447989.6:c.1089+3238G>A | ENSP00000414132.2:n.1089+3238G>A | |
| ENST00000497231.6:n.1232G>A | ||
| ENST00000503281.5:c.611G>A | ||
| ENST00000553117.5:c.1008+3238G>A | ENSP00000448593.1:n.1008+3238G>A | |
| NM_001182.4:c.1022G>A | NP_001173.2:p.Ser341Asn | |
| NM_001201377.1:c.938G>A | NP_001188306.1:p.Ser313Asn | |
| NM_001202404.1:c.1089+3238G>A | NP_001189333.1:n.1089+3238G>A | |
| XM_011543417.1:c.617G>A | XP_011541719.1:p.Ser206Asn | |
| XM_011543417.2:c.617G>A | XP_011541719.1:p.Ser206Asn | |
| NM_001182.5:c.1022G>A MANE Select | NP_001173.2:p.Ser341Asn | |
| NM_001201377.2:c.938G>A | NP_001188306.1:p.Ser313Asn | |
| NM_001202404.2:c.1008+3238G>A | NP_001189333.2:n.1008+3238G>A |