Linked Data
ClinVar Variation Id:
1085195
ClinVar RCV Id:
RCV001402517
dbSNP Id:
rs773264493
ExAC:
5:13753603 C / T
gnomAD v2:
5-13753603-C-T
gnomAD v4:
5-13753494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753494C>T , CM000667.2:g.13753494C>T | GRCh38 |
| NC_000005.9:g.13753603C>T , CM000667.1:g.13753603C>T | GRCh37 |
| NC_000005.8:g.13806603C>T | NCBI36 |
| NG_013081.1:g.195987G>A | |
| NG_013081.2:g.195987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10611G>A MANE Select | ENSP00000265104.4:p.Glu3537= | |
| ENST00000681290.1:c.10566G>A | ENSP00000505288.1:p.Glu3522= | |
| ENST00000265104.4:c.10611G>A | ENSP00000265104.4:p.Glu3537= | |
| NM_001369.2:c.10611G>A | NP_001360.1:p.Glu3537= | |
| XM_005248262.2:c.10566G>A | XP_005248319.1:p.Glu3522= | |
| XM_005248262.3:c.10719G>A | XP_005248319.2:p.Glu3573= | |
| XM_017009177.1:c.10719G>A | XP_016864666.1:p.Glu3573= | |
| XM_017009178.1:c.9624G>A | XP_016864667.1:p.Glu3208= | |
| XM_017009179.2:c.9624G>A | XP_016864668.1:p.Glu3208= | |
| XM_017009180.1:c.10719G>A | XP_016864669.1:p.Glu3573= | |
| XM_017009181.1:c.10719G>A | XP_016864670.1:p.Glu3573= | |
| XM_017009182.1:c.10719G>A | XP_016864671.1:p.Glu3573= | |
| XM_017009185.1:c.5808G>A | XP_016864674.1:p.Glu1936= | |
| XM_017009186.1:c.5361G>A | XP_016864675.1:p.Glu1787= | |
| XM_017009188.1:c.4698G>A | XP_016864677.1:p.Glu1566= | |
| XM_024454388.1:c.9624G>A | XP_024310156.1:p.Glu3208= | |
| XM_024454389.1:c.9213G>A | XP_024310157.1:p.Glu3071= | |
| NM_001369.3:c.10611G>A MANE Select | NP_001360.1:p.Glu3537= |