Linked Data
dbSNP Id:
rs1893132046
gnomAD v4:
12-80460658-T-A
MyVariant Identifiers:
chr12:g.80460658T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460658T>A , CM000674.2:g.80460658T>A | GRCh38 |
| NC_000012.11:g.80849519A>T , CM000674.1:g.80849519A>T | GRCh37 |
| NC_000012.10:g.79373650A>T | NCBI36 |
| NG_034052.1:g.21313T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.666T>A MANE Select | ENSP00000495607.1:p.Asn222Lys | |
| ENST00000614701.4:c.666T>A | ENSP00000482885.1:p.Asn222Lys | |
| ENST00000616559.4:c.792T>A | ENSP00000483259.1:p.Asn264Lys | |
| NM_001145026.1:c.666T>A | NP_001138498.1:p.Asn222Lys | |
| XM_011538290.1:c.666T>A | XP_011536592.1:p.Asn222Lys | |
| XM_017019273.1:c.1332T>A | XP_016874762.1:p.Asn444Lys | |
| XM_017019274.1:c.1332T>A | XP_016874763.1:p.Asn444Lys | |
| XM_017019275.1:c.1332T>A | XP_016874764.1:p.Asn444Lys | |
| XR_001748688.1:n.1469T>A | ||
| XR_001748689.1:n.1469T>A | ||
| NM_001145026.2:c.666T>A MANE Select | NP_001138498.1:p.Asn222Lys |