Linked Data
ClinVar Variation Id:
1124013
ClinVar RCV Id:
RCV001455260
dbSNP Id:
rs1321437513
gnomAD v2:
9-37429723-C-T
gnomAD v4:
9-37429726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429726C>T , CM000671.2:g.37429726C>T | GRCh38 |
| NC_000009.11:g.37429723C>T , CM000671.1:g.37429723C>T | GRCh37 |
| NC_000009.10:g.37419723C>T | NCBI36 |
| NG_008135.1:g.12017C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494-6C>T MANE Select | ENSP00000313432.6:n.494-6C>T | |
| ENST00000318158.10:c.494-6C>T | ENSP00000313432.6:n.494-6C>T | |
| ENST00000377824.8:n.531-6C>T | ||
| ENST00000460882.5:n.521-6C>T | ||
| ENST00000480596.5:n.1189C>T | ||
| ENST00000491488.5:n.199-6C>T | ||
| ENST00000494290.1:c.59C>T | ENSP00000432021.1:p.Ala20Val | |
| ENST00000497693.1:n.2021C>T | ||
| ENST00000607784.1:c.494-6C>T | ENSP00000475569.1:n.494-6C>T | |
| NM_012203.1:c.494-6C>T | NP_036335.1:n.494-6C>T | |
| XM_005251631.1:c.173-6C>T | XP_005251688.1:n.173-6C>T | |
| XM_011518073.1:c.92-6C>T | XP_011516375.1:n.92-6C>T | |
| XR_929374.1:n.939-6C>T | ||
| XM_017015320.2:c.494-6C>T | XP_016870809.1:n.494-6C>T | |
| XM_017015321.2:c.494-6C>T | XP_016870810.1:n.494-6C>T | |
| XM_017015323.2:c.92-6C>T | XP_016870812.1:n.92-6C>T | |
| XM_024447716.1:c.767-6C>T | XP_024303484.1:n.767-6C>T | |
| XM_024447717.1:c.767-6C>T | XP_024303485.1:n.767-6C>T | |
| XR_002956828.1:n.782-6C>T | ||
| XR_002956829.1:n.782-6C>T | ||
| XR_002956830.1:n.553-6C>T | ||
| XR_002956831.1:n.228-6C>T | ||
| XR_002956832.1:n.913-6C>T | ||
| NM_012203.2:c.494-6C>T MANE Select | NP_036335.1:n.494-6C>T |