Linked Data
ClinVar Variation Id:
2782608
ClinVar RCV Id:
RCV003648133
gnomAD v4:
5-13770934-T-C
MyVariant Identifiers:
chr5:g.13771043T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770934T>C , CM000667.2:g.13770934T>C | GRCh38 |
| NC_000005.9:g.13771043T>C , CM000667.1:g.13771043T>C | GRCh37 |
| NC_000005.8:g.13824043T>C | NCBI36 |
| NG_013081.1:g.178547A>G | |
| NG_013081.2:g.178547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9420A>G MANE Select | ENSP00000265104.4:p.Glu3140= | |
| ENST00000681290.1:c.9375A>G | ENSP00000505288.1:p.Glu3125= | |
| ENST00000265104.4:c.9420A>G | ENSP00000265104.4:p.Glu3140= | |
| ENST00000504001.3:n.132A>G | ||
| NM_001369.2:c.9420A>G | NP_001360.1:p.Glu3140= | |
| XM_005248262.2:c.9375A>G | XP_005248319.1:p.Glu3125= | |
| XM_005248262.3:c.9528A>G | XP_005248319.2:p.Glu3176= | |
| XM_017009177.1:c.9528A>G | XP_016864666.1:p.Glu3176= | |
| XM_017009178.1:c.8433A>G | XP_016864667.1:p.Glu2811= | |
| XM_017009179.2:c.8433A>G | XP_016864668.1:p.Glu2811= | |
| XM_017009180.1:c.9528A>G | XP_016864669.1:p.Glu3176= | |
| XM_017009181.1:c.9528A>G | XP_016864670.1:p.Glu3176= | |
| XM_017009182.1:c.9528A>G | XP_016864671.1:p.Glu3176= | |
| XM_017009183.1:c.9528A>G | XP_016864672.1:p.Glu3176= | |
| XM_017009185.1:c.4617A>G | XP_016864674.1:p.Glu1539= | |
| XM_017009186.1:c.4170A>G | XP_016864675.1:p.Glu1390= | |
| XM_017009188.1:c.3507A>G | XP_016864677.1:p.Glu1169= | |
| XM_024454388.1:c.8433A>G | XP_024310156.1:p.Glu2811= | |
| XM_024454389.1:c.8022A>G | XP_024310157.1:p.Glu2674= | |
| NM_001369.3:c.9420A>G MANE Select | NP_001360.1:p.Glu3140= |