Linked Data
ClinVar Variation Id:
1795206
ClinVar RCV Id:
RCV002431305
dbSNP Id:
rs139235944
ExAC:
5:13886094 T / G
gnomAD v2:
5-13886094-T-G
gnomAD v3:
5-13885985-T-G
gnomAD v4:
5-13885985-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13885985T>G , CM000667.2:g.13885985T>G | GRCh38 |
| NC_000005.9:g.13886094T>G , CM000667.1:g.13886094T>G | GRCh37 |
| NC_000005.8:g.13939094T>G | NCBI36 |
| NG_013081.1:g.63496A>C | |
| NG_013081.2:g.63496A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2722A>C MANE Select | ENSP00000265104.4:p.Asn908His | |
| ENST00000681290.1:c.2677A>C | ENSP00000505288.1:p.Asn893His | |
| ENST00000265104.4:c.2722A>C | ENSP00000265104.4:p.Asn908His | |
| NM_001369.2:c.2722A>C | NP_001360.1:p.Asn908His | |
| XM_005248262.2:c.2677A>C | XP_005248319.1:p.Asn893His | |
| XM_011513990.1:c.2722A>C | XP_011512292.1:p.Asn908His | |
| XR_925598.1:n.2929A>C | ||
| XM_005248262.3:c.2830A>C | XP_005248319.2:p.Asn944His | |
| XM_017009177.1:c.2830A>C | XP_016864666.1:p.Asn944His | |
| XM_017009178.1:c.1735A>C | XP_016864667.1:p.Asn579His | |
| XM_017009179.2:c.1735A>C | XP_016864668.1:p.Asn579His | |
| XM_017009180.1:c.2830A>C | XP_016864669.1:p.Asn944His | |
| XM_017009181.1:c.2830A>C | XP_016864670.1:p.Asn944His | |
| XM_017009182.1:c.2830A>C | XP_016864671.1:p.Asn944His | |
| XM_017009183.1:c.2830A>C | XP_016864672.1:p.Asn944His | |
| XM_017009184.1:c.2830A>C | XP_016864673.1:p.Asn944His | |
| XM_017009187.1:c.2830A>C | XP_016864676.1:p.Asn944His | |
| XM_024454388.1:c.1735A>C | XP_024310156.1:p.Asn579His | |
| XM_024454389.1:c.1324A>C | XP_024310157.1:p.Asn442His | |
| XR_001742034.1:n.2847A>C | ||
| XR_001742035.1:n.2847A>C | ||
| NM_001369.3:c.2722A>C MANE Select | NP_001360.1:p.Asn908His |