Linked Data
ClinVar Variation Id:
204236
ClinVar RCV Id:
RCV000186443
dbSNP Id:
rs796052079
gnomAD v3:
9-37432016-T-A
gnomAD v4:
9-37432016-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432016T>A , CM000671.2:g.37432016T>A | GRCh38 |
| NC_000009.11:g.37432013T>A , CM000671.1:g.37432013T>A | GRCh37 |
| NC_000009.10:g.37422013T>A | NCBI36 |
| NG_008135.1:g.14307T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.743T>A MANE Select | ENSP00000313432.6:p.Val248Asp | |
| ENST00000318158.10:c.743T>A | ENSP00000313432.6:p.Val248Asp | |
| ENST00000460882.5:n.770T>A | ||
| ENST00000480596.5:n.1444T>A | ||
| ENST00000482603.1:n.196T>A | ||
| ENST00000491488.5:n.448T>A | ||
| ENST00000494290.1:c.*51+865T>A | ENSP00000432021.1:n.*51+865T>A | |
| ENST00000497693.1:n.4311T>A | ||
| ENST00000607784.1:c.743T>A | ENSP00000475569.1:p.Val248Asp | |
| NM_012203.1:c.743T>A | NP_036335.1:p.Val248Asp | |
| XM_005251631.1:c.422T>A | XP_005251688.1:p.Val141Asp | |
| XM_011518073.1:c.341T>A | XP_011516375.1:p.Val114Asp | |
| XM_017015320.2:c.743T>A | XP_016870809.1:p.Val248Asp | |
| XM_017015321.2:c.743T>A | XP_016870810.1:p.Val248Asp | |
| XM_017015323.2:c.341T>A | XP_016870812.1:p.Val114Asp | |
| XM_024447716.1:c.1016T>A | XP_024303484.1:p.Val339Asp | |
| XM_024447717.1:c.1016T>A | XP_024303485.1:p.Val339Asp | |
| XR_002956828.1:n.1031T>A | ||
| XR_002956829.1:n.1031T>A | ||
| XR_002956830.1:n.2163T>A | ||
| XR_002956831.1:n.1838T>A | ||
| XR_002956832.1:n.1162T>A | ||
| NM_012203.2:c.743T>A MANE Select | NP_036335.1:p.Val248Asp |