Linked Data
ClinVar Variation Id:
2829484
ClinVar RCV Id:
RCV003686316
gnomAD v4:
9-37436671-C-A
MyVariant Identifiers:
chr9:g.37436668C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436671C>A , CM000671.2:g.37436671C>A | GRCh38 |
| NC_000009.11:g.37436668C>A , CM000671.1:g.37436668C>A | GRCh37 |
| NC_000009.10:g.37426668C>A | NCBI36 |
| NG_008135.1:g.18962C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.876C>A MANE Select | ENSP00000313432.6:p.Pro292= | |
| ENST00000318158.10:c.876C>A | ENSP00000313432.6:p.Pro292= | |
| ENST00000460882.5:n.903C>A | ||
| ENST00000480596.5:n.1577C>A | ||
| ENST00000491488.5:n.581C>A | ||
| ENST00000494290.1:c.*52-210C>A | ENSP00000432021.1:n.*52-210C>A | |
| ENST00000497693.1:n.4444C>A | ||
| NM_012203.1:c.876C>A | NP_036335.1:p.Pro292= | |
| XM_005251631.1:c.555C>A | XP_005251688.1:p.Pro185= | |
| XM_011518073.1:c.474C>A | XP_011516375.1:p.Pro158= | |
| XM_017015320.2:c.946-740C>A | XP_016870809.1:n.946-740C>A | |
| XM_017015321.2:c.866-740C>A | XP_016870810.1:n.866-740C>A | |
| XM_017015323.2:c.544-740C>A | XP_016870812.1:n.544-740C>A | |
| XM_024447716.1:c.1219-740C>A | XP_024303484.1:n.1219-740C>A | |
| XM_024447717.1:c.1139-740C>A | XP_024303485.1:n.1139-740C>A | |
| XR_002956828.1:n.1234-740C>A | ||
| XR_002956829.1:n.1154-740C>A | ||
| XR_002956830.1:n.2296C>A | ||
| XR_002956831.1:n.1971C>A | ||
| XR_002956832.1:n.1295C>A | ||
| NM_012203.2:c.876C>A MANE Select | NP_036335.1:p.Pro292= |