Linked Data
ClinVar Variation Id:
3003224
ClinVar RCV Id:
RCV003867839
dbSNP Id:
rs1823267334
gnomAD v3:
9-37429739-C-T
gnomAD v4:
9-37429739-C-T
MyVariant Identifiers:
chr9:g.37429736C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429739C>T , CM000671.2:g.37429739C>T | GRCh38 |
| NC_000009.11:g.37429736C>T , CM000671.1:g.37429736C>T | GRCh37 |
| NC_000009.10:g.37419736C>T | NCBI36 |
| NG_008135.1:g.12030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.501C>T MANE Select | ENSP00000313432.6:p.Ala167= | |
| ENST00000318158.10:c.501C>T | ENSP00000313432.6:p.Ala167= | |
| ENST00000377824.8:n.538C>T | ||
| ENST00000460882.5:n.528C>T | ||
| ENST00000480596.5:n.1202C>T | ||
| ENST00000491488.5:n.206C>T | ||
| ENST00000494290.1:c.72C>T | ENSP00000432021.1:p.Ala24= | |
| ENST00000497693.1:n.2034C>T | ||
| ENST00000607784.1:c.501C>T | ENSP00000475569.1:p.Ala167= | |
| NM_012203.1:c.501C>T | NP_036335.1:p.Ala167= | |
| XM_005251631.1:c.180C>T | XP_005251688.1:p.Ala60= | |
| XM_011518073.1:c.99C>T | XP_011516375.1:p.Ala33= | |
| XR_929374.1:n.946C>T | ||
| XM_017015320.2:c.501C>T | XP_016870809.1:p.Ala167= | |
| XM_017015321.2:c.501C>T | XP_016870810.1:p.Ala167= | |
| XM_017015323.2:c.99C>T | XP_016870812.1:p.Ala33= | |
| XM_024447716.1:c.774C>T | XP_024303484.1:p.Ala258= | |
| XM_024447717.1:c.774C>T | XP_024303485.1:p.Ala258= | |
| XR_002956828.1:n.789C>T | ||
| XR_002956829.1:n.789C>T | ||
| XR_002956830.1:n.560C>T | ||
| XR_002956831.1:n.235C>T | ||
| XR_002956832.1:n.920C>T | ||
| NM_012203.2:c.501C>T MANE Select | NP_036335.1:p.Ala167= |