Linked Data
ClinVar Variation Id:
2884923
ClinVar RCV Id:
RCV003649963
MyVariant Identifiers:
chr5:g.13866389A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13866280A>G , CM000667.2:g.13866280A>G | GRCh38 |
| NC_000005.9:g.13866389A>G , CM000667.1:g.13866389A>G | GRCh37 |
| NC_000005.8:g.13919389A>G | NCBI36 |
| NG_013081.1:g.83201T>C | |
| NG_013081.2:g.83201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.4056T>C MANE Select | ENSP00000265104.4:p.Asn1352= | |
| ENST00000681290.1:c.4011T>C | ENSP00000505288.1:p.Asn1337= | |
| ENST00000265104.4:c.4056T>C | ENSP00000265104.4:p.Asn1352= | |
| NM_001369.2:c.4056T>C | NP_001360.1:p.Asn1352= | |
| XM_005248262.2:c.4011T>C | XP_005248319.1:p.Asn1337= | |
| XM_011513990.1:c.4056T>C | XP_011512292.1:p.Asn1352= | |
| XR_925598.1:n.4263T>C | ||
| XM_005248262.3:c.4164T>C | XP_005248319.2:p.Asn1388= | |
| XM_017009177.1:c.4164T>C | XP_016864666.1:p.Asn1388= | |
| XM_017009178.1:c.3069T>C | XP_016864667.1:p.Asn1023= | |
| XM_017009179.2:c.3069T>C | XP_016864668.1:p.Asn1023= | |
| XM_017009180.1:c.4164T>C | XP_016864669.1:p.Asn1388= | |
| XM_017009181.1:c.4164T>C | XP_016864670.1:p.Asn1388= | |
| XM_017009182.1:c.4164T>C | XP_016864671.1:p.Asn1388= | |
| XM_017009183.1:c.4164T>C | XP_016864672.1:p.Asn1388= | |
| XM_017009184.1:c.4164T>C | XP_016864673.1:p.Asn1388= | |
| XM_017009187.1:c.4164T>C | XP_016864676.1:p.Asn1388= | |
| XM_024454388.1:c.3069T>C | XP_024310156.1:p.Asn1023= | |
| XM_024454389.1:c.2658T>C | XP_024310157.1:p.Asn886= | |
| XR_001742034.1:n.4181T>C | ||
| XR_001742035.1:n.4181T>C | ||
| NM_001369.3:c.4056T>C MANE Select | NP_001360.1:p.Asn1352= |