Linked Data
ClinVar Variation Id:
454743
dbSNP Id:
rs767716511
ExAC:
5:13701458 G / A
gnomAD v2:
5-13701458-G-A
gnomAD v4:
5-13701349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701349G>A , CM000667.2:g.13701349G>A | GRCh38 |
| NC_000005.9:g.13701458G>A , CM000667.1:g.13701458G>A | GRCh37 |
| NC_000005.8:g.13754458G>A | NCBI36 |
| NG_013081.1:g.248132C>T | |
| NG_013081.2:g.248132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.759C>T | ||
| ENST00000265104.5:c.13426C>T MANE Select | ENSP00000265104.4:p.Arg4476Ter | |
| ENST00000681290.1:c.13381C>T | ENSP00000505288.1:p.Arg4461Ter | |
| ENST00000265104.4:c.13426C>T | ENSP00000265104.4:p.Arg4476Ter | |
| NM_001369.2:c.13426C>T | NP_001360.1:p.Arg4476Ter | |
| XM_005248262.2:c.13381C>T | XP_005248319.1:p.Arg4461Ter | |
| XM_005248262.3:c.13534C>T | XP_005248319.2:p.Arg4512Ter | |
| XM_017009177.1:c.13114C>T | XP_016864666.1:p.Arg4372Ter | |
| XM_017009178.1:c.12439C>T | XP_016864667.1:p.Arg4147Ter | |
| XM_017009179.2:c.12439C>T | XP_016864668.1:p.Arg4147Ter | |
| XM_017009185.1:c.8623C>T | XP_016864674.1:p.Arg2875Ter | |
| XM_017009186.1:c.8176C>T | XP_016864675.1:p.Arg2726Ter | |
| XM_017009188.1:c.7513C>T | XP_016864677.1:p.Arg2505Ter | |
| XM_024454388.1:c.12439C>T | XP_024310156.1:p.Arg4147Ter | |
| XM_024454389.1:c.12028C>T | XP_024310157.1:p.Arg4010Ter | |
| NM_001369.3:c.13426C>T MANE Select | NP_001360.1:p.Arg4476Ter |