Linked Data
ClinVar Variation Id:
1181474
ClinVar RCV Id:
RCV001538873
dbSNP Id:
rs11658329
gnomAD v2:
17-61763031-G-C
gnomAD v3:
17-63685671-G-C
gnomAD v4:
17-63685671-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63685671G>C , CM000679.2:g.63685671G>C | GRCh38 |
| NC_000017.10:g.61763031G>C , CM000679.1:g.61763031G>C | GRCh37 |
| NC_000017.9:g.59116763G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361733.8:c.710+81G>C (MAP3K3) MANE Select | ENSP00000354485.4:n.710+81G>C | |
| ENST00000640870.1:c.*393-2913C>G (STRADA) | ENSP00000492479.1:n.*393-2913C>G | |
| ENST00000361357.7:c.803+81G>C (MAP3K3) | ENSP00000354927.3:n.803+81G>C | |
| ENST00000361733.7:c.710+81G>C (MAP3K3) | ENSP00000354485.3:n.710+81G>C | |
| ENST00000577395.5:c.698+93G>C (MAP3K3) | ENSP00000462086.1:n.698+93G>C | |
| ENST00000577597.5:c.*535+81G>C (MAP3K3) | ENSP00000462917.1:n.*535+81G>C | |
| ENST00000579585.5:c.803+81G>C (MAP3K3) | ENSP00000461988.1:n.803+81G>C | |
| ENST00000584573.5:c.791+93G>C (MAP3K3) | ENSP00000464130.1:n.791+93G>C | |
| ENST00000585302.1:c.530+93G>C (MAP3K3) | ||
| NM_002401.3:c.710+81G>C (MAP3K3) | NP_002392.2:n.710+81G>C | |
| NM_203351.1:c.803+81G>C (MAP3K3) | NP_976226.1:n.803+81G>C | |
| XM_005257376.2:c.791+93G>C (MAP3K3) | XP_005257433.1:n.791+93G>C | |
| XM_005257377.2:c.698+93G>C (MAP3K3) | XP_005257434.1:n.698+93G>C | |
| XM_005257378.2:c.803+81G>C (MAP3K3) | XP_005257435.1:n.803+81G>C | |
| XR_243740.2:n.594-2913C>G | ||
| XR_934463.1:n.1354+81G>C (MAP3K3) | ||
| NM_001330431.1:c.698+93G>C (MAP3K3) | NP_001317360.1:n.698+93G>C | |
| NM_001363768.1:c.791+93G>C (MAP3K3) | NP_001350697.1:n.791+93G>C | |
| NM_002401.4:c.710+81G>C (MAP3K3) | NP_002392.2:n.710+81G>C | |
| NM_203351.2:c.803+81G>C (MAP3K3) | NP_976226.1:n.803+81G>C | |
| XR_243740.3:n.613-2913C>G | ||
| NM_001330431.2:c.698+93G>C (MAP3K3) | NP_001317360.1:n.698+93G>C | |
| NM_001363768.2:c.791+93G>C (MAP3K3) | NP_001350697.1:n.791+93G>C | |
| NM_002401.5:c.710+81G>C (MAP3K3) MANE Select | NP_002392.2:n.710+81G>C | |
| NM_203351.3:c.803+81G>C (MAP3K3) | NP_976226.1:n.803+81G>C |