Linked Data
ClinVar Variation Id:
262631
dbSNP Id:
rs3811578
ExAC:
2:233201328 A / G
gnomAD v2:
2-233201328-A-G
gnomAD v3:
2-232336618-A-G
gnomAD v4:
2-232336618-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232336618A>G , CM000664.2:g.232336618A>G | GRCh38 |
| NC_000002.11:g.233201328A>G , CM000664.1:g.233201328A>G | GRCh37 |
| NC_000002.10:g.232909572A>G | NCBI36 |
| NG_032572.1:g.380036A>G , LRG_534:g.380036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325385.12:c.2646A>G MANE Select | ENSP00000315569.7:p.Ser882= | |
| ENST00000273009.10:c.1582-6727A>G | ENSP00000273009.6:n.1582-6727A>G | |
| ENST00000325385.11:c.2646A>G | ENSP00000315569.7:p.Ser882= | |
| ENST00000390005.9:c.*713A>G | ENSP00000374655.5:n.*713A>G | |
| ENST00000409307.5:c.2646A>G | ENSP00000386799.1:p.Ser882= | |
| ENST00000417808.1:c.568A>G | ENSP00000408764.1:n.568A>G | |
| ENST00000418143.1:c.487A>G | ||
| ENST00000429283.2:n.3974A>G | ||
| ENST00000433430.5:c.4312A>G | ENSP00000391175.1:n.4312A>G | |
| ENST00000434477.5:c.383+744A>G | ||
| NM_001257281.1:c.1582-6727A>G | NP_001244210.1:n.1582-6727A>G | |
| NM_152383.4:c.2646A>G , LRG_534t1:c.2646A>G | NP_689596.4:p.Ser882= | |
| NR_046476.1:n.2849A>G | ||
| NR_046477.1:n.3422A>G | ||
| NM_001257281.2:c.1582-6727A>G | NP_001244210.1:n.1582-6727A>G | |
| NM_152383.5:c.2646A>G MANE Select | NP_689596.4:p.Ser882= | |
| NR_046476.2:n.2719A>G | ||
| NR_046477.2:n.3292A>G |