Linked Data
ClinVar Variation Id:
201748
dbSNP Id:
rs794729003
gnomAD v2:
X-32456492-T-C
gnomAD v3:
X-32438375-T-C
gnomAD v4:
X-32438375-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32438375T>C , CM000685.2:g.32438375T>C | GRCh38 |
| NC_000023.10:g.32456492T>C , CM000685.1:g.32456492T>C | GRCh37 |
| NC_000023.9:g.32366413T>C | NCBI36 |
| NG_012232.1:g.906235A>G , LRG_199:g.906235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.3937A>G MANE Select | ENSP00000354923.3:p.Met1313Val | |
| ENST00000357033.8:c.3937A>G | ENSP00000354923.3:p.Met1313Val | |
| ENST00000378677.6:c.3925A>G | ENSP00000367948.2:p.Met1309Val | |
| ENST00000420596.5:c.94-73176A>G | ENSP00000399897.1:n.94-73176A>G | |
| ENST00000448370.5:c.94-73665A>G | ENSP00000388559.1:n.94-73665A>G | |
| ENST00000488902.5:n.336-221312A>G | ||
| ENST00000619831.4:c.3925A>G | ENSP00000479270.1:p.Met1309Val | |
| ENST00000620040.4:c.3937A>G | ENSP00000478150.1:p.Met1313Val | |
| NM_000109.3:c.3913A>G | NP_000100.2:p.Met1305Val | |
| NM_004006.2:c.3937A>G , LRG_199t1:c.3937A>G | NP_003997.1:p.Met1313Val | |
| NM_004009.3:c.3925A>G | NP_004000.1:p.Met1309Val | |
| NM_004010.3:c.3568A>G | NP_004001.1:p.Met1190Val | |
| XM_006724468.2:c.3937A>G | XP_006724531.1:p.Met1313Val | |
| XM_006724469.2:c.3913A>G | XP_006724532.1:p.Met1305Val | |
| XM_006724470.2:c.3937A>G | XP_006724533.1:p.Met1313Val | |
| XM_006724471.2:c.3937A>G | XP_006724534.1:p.Met1313Val | |
| XM_006724472.2:c.3808A>G | XP_006724535.1:p.Met1270Val | |
| XM_006724473.2:c.3937A>G | XP_006724536.1:p.Met1313Val | |
| XM_006724474.2:c.3937A>G | XP_006724537.1:p.Met1313Val | |
| XM_006724475.2:c.3937A>G | XP_006724538.1:p.Met1313Val | |
| XM_011545467.1:c.3937A>G | XP_011543769.1:p.Met1313Val | |
| XM_011545468.1:c.3937A>G | XP_011543770.1:p.Met1313Val | |
| XM_011545469.1:c.3937A>G | XP_011543771.1:p.Met1313Val | |
| XM_006724469.3:c.3913A>G | XP_006724532.1:p.Met1305Val | |
| XM_006724470.3:c.3937A>G | XP_006724533.1:p.Met1313Val | |
| XM_006724474.3:c.3937A>G | XP_006724537.1:p.Met1313Val | |
| XM_011545468.2:c.3937A>G | XP_011543770.1:p.Met1313Val | |
| XM_017029328.1:c.3937A>G | XP_016884817.1:p.Met1313Val | |
| XM_017029329.1:c.3937A>G | XP_016884818.1:p.Met1313Val | |
| XM_017029330.2:c.3937A>G | XP_016884819.1:p.Met1313Val | |
| NM_000109.4:c.3913A>G | NP_000100.3:p.Met1305Val | |
| NM_004006.3:c.3937A>G MANE Select | NP_003997.2:p.Met1313Val |