Linked Data
ClinVar Variation Id:
204232
ClinVar RCV Id:
RCV000186439
dbSNP Id:
rs180177305
ExAC:
9:37424961 T / C
gnomAD v2:
9-37424961-T-C
gnomAD v4:
9-37424964-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37424964T>C , CM000671.2:g.37424964T>C | GRCh38 |
| NC_000009.11:g.37424961T>C , CM000671.1:g.37424961T>C | GRCh37 |
| NC_000009.10:g.37414961T>C | NCBI36 |
| NG_008135.1:g.7255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.203T>C MANE Select | ENSP00000313432.6:p.Leu68Pro | |
| ENST00000318158.10:c.203T>C | ENSP00000313432.6:p.Leu68Pro | |
| ENST00000377824.8:n.240T>C | ||
| ENST00000460882.5:n.230T>C | ||
| ENST00000487399.5:n.212T>C | ||
| ENST00000491488.5:n.109+2131T>C | ||
| ENST00000493368.5:n.260T>C | ||
| ENST00000607784.1:c.203T>C | ENSP00000475569.1:p.Leu68Pro | |
| NM_012203.1:c.203T>C | NP_036335.1:p.Leu68Pro | |
| XM_005251631.1:c.83+2131T>C | XP_005251688.1:n.83+2131T>C | |
| XM_011518073.1:c.-560T>C | XP_011516375.1:n.-560T>C | |
| XR_929374.1:n.288T>C | ||
| XM_017015320.2:c.203T>C | XP_016870809.1:p.Leu68Pro | |
| XM_017015321.2:c.203T>C | XP_016870810.1:p.Leu68Pro | |
| XM_017015323.2:c.-560T>C | XP_016870812.1:n.-560T>C | |
| XM_024447716.1:c.476T>C | XP_024303484.1:p.Leu159Pro | |
| XM_024447717.1:c.476T>C | XP_024303485.1:p.Leu159Pro | |
| XR_002956828.1:n.491T>C | ||
| XR_002956829.1:n.491T>C | ||
| XR_002956830.1:n.262T>C | ||
| XR_002956831.1:n.138+2131T>C | ||
| XR_002956832.1:n.262T>C | ||
| NM_012203.2:c.203T>C MANE Select | NP_036335.1:p.Leu68Pro |