Linked Data
ClinVar Variation Id:
2808422
ClinVar RCV Id:
RCV003684845
gnomAD v4:
9-37436747-A-C
MyVariant Identifiers:
chr9:g.37436744A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436747A>C , CM000671.2:g.37436747A>C | GRCh38 |
| NC_000009.11:g.37436744A>C , CM000671.1:g.37436744A>C | GRCh37 |
| NC_000009.10:g.37426744A>C | NCBI36 |
| NG_008135.1:g.19038A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.952A>C MANE Select | ENSP00000313432.6:p.Arg318= | |
| ENST00000318158.10:c.952A>C | ENSP00000313432.6:p.Arg318= | |
| ENST00000460882.5:n.979A>C | ||
| ENST00000480596.5:n.1653A>C | ||
| ENST00000494290.1:c.*52-134A>C | ENSP00000432021.1:n.*52-134A>C | |
| ENST00000497693.1:n.4520A>C | ||
| NM_012203.1:c.952A>C | NP_036335.1:p.Arg318= | |
| XM_005251631.1:c.631A>C | XP_005251688.1:p.Arg211= | |
| XM_011518073.1:c.550A>C | XP_011516375.1:p.Arg184= | |
| XM_017015320.2:c.946-664A>C | XP_016870809.1:n.946-664A>C | |
| XM_017015321.2:c.866-664A>C | XP_016870810.1:n.866-664A>C | |
| XM_017015323.2:c.544-664A>C | XP_016870812.1:n.544-664A>C | |
| XM_024447716.1:c.1219-664A>C | XP_024303484.1:n.1219-664A>C | |
| XM_024447717.1:c.1139-664A>C | XP_024303485.1:n.1139-664A>C | |
| XR_002956828.1:n.1234-664A>C | ||
| XR_002956829.1:n.1154-664A>C | ||
| XR_002956830.1:n.2372A>C | ||
| XR_002956831.1:n.2047A>C | ||
| XR_002956832.1:n.1371A>C | ||
| NM_012203.2:c.952A>C MANE Select | NP_036335.1:p.Arg318= |