Linked Data
ClinVar Variation Id:
1595393
ClinVar RCV Id:
RCV002109589
dbSNP Id:
rs1310264829
gnomAD v4:
5-13768975-T-G
MyVariant Identifiers:
chr5:g.13769084T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13768975T>G , CM000667.2:g.13768975T>G | GRCh38 |
| NC_000005.9:g.13769084T>G , CM000667.1:g.13769084T>G | GRCh37 |
| NC_000005.8:g.13822084T>G | NCBI36 |
| NG_013081.1:g.180506A>C | |
| NG_013081.2:g.180506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9882A>C MANE Select | ENSP00000265104.4:p.Ala3294= | |
| ENST00000681290.1:c.9837A>C | ENSP00000505288.1:p.Ala3279= | |
| ENST00000265104.4:c.9882A>C | ENSP00000265104.4:p.Ala3294= | |
| ENST00000504001.3:n.594A>C | ||
| NM_001369.2:c.9882A>C | NP_001360.1:p.Ala3294= | |
| XM_005248262.2:c.9837A>C | XP_005248319.1:p.Ala3279= | |
| XM_005248262.3:c.9990A>C | XP_005248319.2:p.Ala3330= | |
| XM_017009177.1:c.9990A>C | XP_016864666.1:p.Ala3330= | |
| XM_017009178.1:c.8895A>C | XP_016864667.1:p.Ala2965= | |
| XM_017009179.2:c.8895A>C | XP_016864668.1:p.Ala2965= | |
| XM_017009180.1:c.9990A>C | XP_016864669.1:p.Ala3330= | |
| XM_017009181.1:c.9990A>C | XP_016864670.1:p.Ala3330= | |
| XM_017009182.1:c.9990A>C | XP_016864671.1:p.Ala3330= | |
| XM_017009185.1:c.5079A>C | XP_016864674.1:p.Ala1693= | |
| XM_017009186.1:c.4632A>C | XP_016864675.1:p.Ala1544= | |
| XM_017009188.1:c.3969A>C | XP_016864677.1:p.Ala1323= | |
| XM_024454388.1:c.8895A>C | XP_024310156.1:p.Ala2965= | |
| XM_024454389.1:c.8484A>C | XP_024310157.1:p.Ala2828= | |
| NM_001369.3:c.9882A>C MANE Select | NP_001360.1:p.Ala3294= |