Linked Data
ClinVar Variation Id:
437762
dbSNP Id:
rs568736395
ExAC:
6:99323510 T / G
gnomAD v2:
6-99323510-T-G
gnomAD v3:
6-98875634-T-G
gnomAD v4:
6-98875634-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875634T>G , CM000668.2:g.98875634T>G | GRCh38 |
| NC_000006.11:g.99323510T>G , CM000668.1:g.99323510T>G | GRCh37 |
| NC_000006.10:g.99430231T>G | NCBI36 |
| NG_033903.1:g.77373A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1483A>C MANE Select | ENSP00000358247.1:p.Asn495His | |
| ENST00000229971.2:c.1483A>C | ENSP00000229971.1:p.Asn495His | |
| ENST00000369244.6:c.1483A>C | ENSP00000358247.1:p.Asn495His | |
| NM_001278716.1:c.1483A>C | NP_001265645.1:p.Asn495His | |
| NM_012160.4:c.1483A>C | NP_036292.2:p.Asn495His | |
| NR_103836.1:n.1528A>C | ||
| XM_005266930.1:c.1411A>C | XP_005266987.1:p.Asn471His | |
| XM_005266930.3:c.1411A>C | XP_005266987.1:p.Asn471His | |
| XM_017010726.1:c.1483A>C | XP_016866215.1:p.Asn495His | |
| XM_017010727.2:c.1411A>C | XP_016866216.1:p.Asn471His | |
| XM_017010728.1:c.757A>C | XP_016866217.1:p.Asn253His | |
| NM_001278716.2:c.1483A>C MANE Select | NP_001265645.1:p.Asn495His | |
| NR_103836.2:n.1468A>C | ||
| NM_012160.5:c.1483A>C | NP_036292.2:p.Asn495His |