Linked Data
ClinVar Variation Id:
1213987
ClinVar RCV Id:
RCV001591930
dbSNP Id:
rs2125488757
gnomAD v4:
1-197429466-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429466T>G , CM000663.2:g.197429466T>G | GRCh38 |
| NC_000001.10:g.197398596T>G , CM000663.1:g.197398596T>G | GRCh37 |
| NC_000001.9:g.195665219T>G | NCBI36 |
| NG_008483.1:g.166189T>G | |
| NG_008483.2:g.233005T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2694T>G MANE Select | ENSP00000356370.3:p.Asn898Lys | |
| ENST00000638467.1:c.2694T>G | ENSP00000491102.1:p.Asn898Lys | |
| ENST00000681519.1:c.1575T>G | ENSP00000505267.1:p.Asn525Lys | |
| ENST00000367397.1:c.837T>G | ENSP00000356367.1:p.Asn279Lys | |
| ENST00000367399.6:c.2358T>G | ENSP00000356369.2:p.Asn786Lys | |
| ENST00000367400.7:c.2694T>G | ENSP00000356370.3:p.Asn898Lys | |
| ENST00000484075.5:c.2694T>G | ENSP00000433932.1:p.Asn898Lys | |
| ENST00000535699.5:c.2622T>G | ENSP00000438786.1:p.Asn874Lys | |
| ENST00000538660.5:c.2129-6134T>G | ENSP00000438091.1:n.2129-6134T>G | |
| NM_001193640.1:c.2358T>G | NP_001180569.1:p.Asn786Lys | |
| NM_001257965.1:c.2622T>G | NP_001244894.1:p.Asn874Lys | |
| NM_001257966.1:c.2129-6134T>G | NP_001244895.1:n.2129-6134T>G | |
| NM_201253.2:c.2694T>G | NP_957705.1:p.Asn898Lys | |
| NR_047563.1:n.2695T>G | ||
| NR_047564.1:n.2903T>G | ||
| XM_011509365.1:c.2694T>G | XP_011507667.1:p.Asn898Lys | |
| XM_011509366.1:c.2694T>G | XP_011507668.1:p.Asn898Lys | |
| XM_011509367.1:c.2694T>G | XP_011507669.1:p.Asn898Lys | |
| XM_011509368.1:c.2112T>G | XP_011507670.1:p.Asn704Lys | |
| XM_011509369.1:c.1137T>G | XP_011507671.1:p.Asn379Lys | |
| XM_011509365.2:c.2694T>G | XP_011507667.1:p.Asn898Lys | |
| XM_011509369.2:c.1137T>G | XP_011507671.1:p.Asn379Lys | |
| XM_017000851.1:c.1851T>G | XP_016856340.1:p.Asn617Lys | |
| XM_017000852.1:c.2829T>G | XP_016856341.1:p.Asn943Lys | |
| NM_201253.3:c.2694T>G MANE Select | NP_957705.1:p.Asn898Lys | |
| NM_001193640.2:c.2358T>G | NP_001180569.1:p.Asn786Lys | |
| NM_001257965.2:c.2622T>G | NP_001244894.1:p.Asn874Lys | |
| NR_047563.2:n.2647T>G | ||
| NR_047564.2:n.2855T>G | ||
| NM_001257966.2:c.2129-6134T>G | NP_001244895.1:n.2129-6134T>G |