Linked Data
dbSNP Id:
rs56069227
gnomAD v2:
5-56155672-A-C
gnomAD v3:
5-56859845-A-C
gnomAD v4:
5-56859845-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859845A>C , CM000667.2:g.56859845A>C | GRCh38 |
| NC_000005.9:g.56155672A>C , CM000667.1:g.56155672A>C | GRCh37 |
| NC_000005.8:g.56191429A>C | NCBI36 |
| NG_031884.1:g.49773A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.764A>C MANE Select | ENSP00000382423.3:p.Asn255Thr | |
| ENST00000399503.3:c.764A>C | ENSP00000382423.3:p.Asn255Thr | |
| NM_005921.1:c.764A>C | NP_005912.1:p.Asn255Thr | |
| XM_005248519.3:c.386A>C | XP_005248576.2:p.Asn129Thr | |
| XM_011543406.1:c.509A>C | XP_011541708.1:p.Asn170Thr | |
| XM_011543407.1:c.764A>C | XP_011541709.1:p.Asn255Thr | |
| XM_011543408.1:c.764A>C | XP_011541710.1:p.Asn255Thr | |
| XM_017009484.1:c.353A>C | XP_016864973.1:p.Asn118Thr | |
| XM_017009485.1:c.275A>C | XP_016864974.1:p.Asn92Thr | |
| XR_001742068.2:n.795A>C | ||
| NM_005921.2:c.764A>C MANE Select | NP_005912.1:p.Asn255Thr |