Linked Data
ClinVar Variation Id:
1401420
ClinVar RCV Id:
RCV001935093
dbSNP Id:
rs1420575942
gnomAD v2:
5-13752289-T-C
gnomAD v3:
5-13752180-T-C
gnomAD v4:
5-13752180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752180T>C , CM000667.2:g.13752180T>C | GRCh38 |
| NC_000005.9:g.13752289T>C , CM000667.1:g.13752289T>C | GRCh37 |
| NC_000005.8:g.13805289T>C | NCBI36 |
| NG_013081.1:g.197301A>G | |
| NG_013081.2:g.197301A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10982A>G MANE Select | ENSP00000265104.4:p.Asp3661Gly | |
| ENST00000681290.1:c.10937A>G | ENSP00000505288.1:p.Asp3646Gly | |
| ENST00000265104.4:c.10982A>G | ENSP00000265104.4:p.Asp3661Gly | |
| NM_001369.2:c.10982A>G | NP_001360.1:p.Asp3661Gly | |
| XM_005248262.2:c.10937A>G | XP_005248319.1:p.Asp3646Gly | |
| XM_005248262.3:c.11090A>G | XP_005248319.2:p.Asp3697Gly | |
| XM_017009177.1:c.11090A>G | XP_016864666.1:p.Asp3697Gly | |
| XM_017009178.1:c.9995A>G | XP_016864667.1:p.Asp3332Gly | |
| XM_017009179.2:c.9995A>G | XP_016864668.1:p.Asp3332Gly | |
| XM_017009180.1:c.11090A>G | XP_016864669.1:p.Asp3697Gly | |
| XM_017009181.1:c.11090A>G | XP_016864670.1:p.Asp3697Gly | |
| XM_017009182.1:c.11090A>G | XP_016864671.1:p.Asp3697Gly | |
| XM_017009185.1:c.6179A>G | XP_016864674.1:p.Asp2060Gly | |
| XM_017009186.1:c.5732A>G | XP_016864675.1:p.Asp1911Gly | |
| XM_017009188.1:c.5069A>G | XP_016864677.1:p.Asp1690Gly | |
| XM_024454388.1:c.9995A>G | XP_024310156.1:p.Asp3332Gly | |
| XM_024454389.1:c.9584A>G | XP_024310157.1:p.Asp3195Gly | |
| NM_001369.3:c.10982A>G MANE Select | NP_001360.1:p.Asp3661Gly |