Linked Data
ClinVar Variation Id:
1357084
ClinVar RCV Id:
RCV001880595
dbSNP Id:
rs774527322
ExAC:
5:13692232 G / A
gnomAD v2:
5-13692232-G-A
gnomAD v4:
5-13692123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692123G>A , CM000667.2:g.13692123G>A | GRCh38 |
| NC_000005.9:g.13692232G>A , CM000667.1:g.13692232G>A | GRCh37 |
| NC_000005.8:g.13745232G>A | NCBI36 |
| NG_013081.1:g.257358C>T | |
| NG_013081.2:g.257358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1069C>T | ||
| ENST00000265104.5:c.13736C>T MANE Select | ENSP00000265104.4:p.Pro4579Leu | |
| ENST00000681290.1:c.13691C>T | ENSP00000505288.1:p.Pro4564Leu | |
| ENST00000265104.4:c.13736C>T | ENSP00000265104.4:p.Pro4579Leu | |
| NM_001369.2:c.13736C>T | NP_001360.1:p.Pro4579Leu | |
| XM_005248262.2:c.13691C>T | XP_005248319.1:p.Pro4564Leu | |
| XM_005248262.3:c.13844C>T | XP_005248319.2:p.Pro4615Leu | |
| XM_017009177.1:c.13424C>T | XP_016864666.1:p.Pro4475Leu | |
| XM_017009178.1:c.12749C>T | XP_016864667.1:p.Pro4250Leu | |
| XM_017009179.2:c.12749C>T | XP_016864668.1:p.Pro4250Leu | |
| XM_017009185.1:c.8933C>T | XP_016864674.1:p.Pro2978Leu | |
| XM_017009186.1:c.8486C>T | XP_016864675.1:p.Pro2829Leu | |
| XM_017009188.1:c.7823C>T | XP_016864677.1:p.Pro2608Leu | |
| XM_024454388.1:c.12749C>T | XP_024310156.1:p.Pro4250Leu | |
| XM_024454389.1:c.12338C>T | XP_024310157.1:p.Pro4113Leu | |
| NM_001369.3:c.13736C>T MANE Select | NP_001360.1:p.Pro4579Leu |