Linked Data
dbSNP Id:
rs746007852
ExAC:
X:70073138 T / G
gnomAD v2:
X-70073138-T-G
gnomAD v4:
X-70853288-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70853288T>G , CM000685.2:g.70853288T>G | GRCh38 |
| NC_000023.10:g.70073138T>G , CM000685.1:g.70073138T>G | GRCh37 |
| NC_000023.9:g.69989863T>G | NCBI36 |
| NG_012574.1:g.60430A>C | |
| NG_012574.2:g.60430A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374333.7:c.365A>C MANE Select | ENSP00000363453.2:p.Asn122Thr | |
| ENST00000344304.3:c.410A>C | ENSP00000340995.3:p.Asn137Thr | |
| ENST00000374333.6:c.365A>C | ENSP00000363453.2:p.Asn122Thr | |
| ENST00000395889.6:c.410A>C | ENSP00000379226.2:p.Asn137Thr | |
| NM_001003811.1:c.410A>C | NP_001003811.1:p.Asn137Thr | |
| NM_031276.2:c.365A>C | NP_112566.2:p.Asn122Thr | |
| XM_011530994.1:c.365A>C | XP_011529296.1:p.Asn122Thr | |
| XM_017029649.1:c.365A>C | XP_016885138.1:p.Asn122Thr | |
| NM_001003811.2:c.410A>C | NP_001003811.1:p.Asn137Thr | |
| NM_031276.3:c.365A>C MANE Select | NP_112566.2:p.Asn122Thr |