Linked Data
ClinVar Variation Id:
902539
dbSNP Id:
rs375971612
ExAC:
3:45814024 A / T
gnomAD v2:
3-45814024-A-T
gnomAD v3:
3-45772532-A-T
gnomAD v4:
3-45772532-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45772532A>T , CM000665.2:g.45772532A>T | GRCh38 |
| NC_000003.11:g.45814024A>T , CM000665.1:g.45814024A>T | GRCh37 |
| NC_000003.10:g.45789028A>T | NCBI36 |
| NG_023204.1:g.29012T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703343.1:c.666T>A | ENSP00000515266.1:p.Asn222Lys | |
| ENST00000358525.9:c.666T>A MANE Select | ENSP00000346298.4:p.Asn222Lys | |
| ENST00000353278.8:c.583-1074T>A | ENSP00000296133.5:n.583-1074T>A | |
| ENST00000358525.8:c.666T>A | ENSP00000346298.4:p.Asn222Lys | |
| ENST00000413781.1:c.525T>A | ENSP00000395506.1:p.Asn175Lys | |
| ENST00000456124.6:c.666T>A | ENSP00000404310.2:p.Asn222Lys | |
| NM_020208.3:c.666T>A | NP_064593.1:p.Asn222Lys | |
| NM_022405.3:c.583-1074T>A | NP_071800.1:n.583-1074T>A | |
| XM_005265236.2:c.666T>A | XP_005265293.1:p.Asn222Lys | |
| XM_011533847.1:c.369T>A | XP_011532149.1:p.Asn123Lys | |
| XM_011533848.1:c.666T>A | XP_011532150.1:p.Asn222Lys | |
| XM_011533847.2:c.369T>A | XP_011532149.1:p.Asn123Lys | |
| XM_011533848.2:c.666T>A | XP_011532150.1:p.Asn222Lys | |
| NM_020208.4:c.666T>A MANE Select | NP_064593.1:p.Asn222Lys | |
| NM_022405.4:c.583-1074T>A | NP_071800.1:n.583-1074T>A | |
| NM_001385683.1:c.666T>A | NP_001372612.1:p.Asn222Lys |