Linked Data
ClinVar Variation Id:
294677
ClinVar RCV Id:
RCV000289291
RCV000352667
RCV000398025
RCV000423844
RCV000878020
RCV001699429
RCV001828287
dbSNP Id:
rs151104285
ExAC:
1:197396762 C / T
gnomAD v2:
1-197396762-C-T
gnomAD v3:
1-197427632-C-T
gnomAD v4:
1-197427632-C-T
COSMIC:
COSM209336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427632C>T , CM000663.2:g.197427632C>T | GRCh38 |
| NC_000001.10:g.197396762C>T , CM000663.1:g.197396762C>T | GRCh37 |
| NC_000001.9:g.195663385C>T | NCBI36 |
| NG_008483.1:g.164355C>T | |
| NG_008483.2:g.231171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2307C>T MANE Select | ENSP00000356370.3:p.Arg769= | |
| ENST00000638467.1:c.2307C>T | ENSP00000491102.1:p.Arg769= | |
| ENST00000681519.1:c.1188C>T | ENSP00000505267.1:p.Arg396= | |
| ENST00000367397.1:c.450C>T | ENSP00000356367.1:p.Arg150= | |
| ENST00000367399.6:c.1971C>T | ENSP00000356369.2:p.Arg657= | |
| ENST00000367400.7:c.2307C>T | ENSP00000356370.3:p.Arg769= | |
| ENST00000480086.2:n.208C>T | ||
| ENST00000484075.5:c.2307C>T | ENSP00000433932.1:p.Arg769= | |
| ENST00000535699.5:c.2100C>T | ENSP00000438786.1:p.Arg700= | |
| ENST00000538660.5:c.2128+5676C>T | ENSP00000438091.1:n.2128+5676C>T | |
| NM_001193640.1:c.1971C>T | NP_001180569.1:p.Arg657= | |
| NM_001257965.1:c.2100C>T | NP_001244894.1:p.Arg700= | |
| NM_001257966.1:c.2128+5676C>T | NP_001244895.1:n.2128+5676C>T | |
| NM_201253.2:c.2307C>T | NP_957705.1:p.Arg769= | |
| NR_047563.1:n.2308C>T | ||
| NR_047564.1:n.2516C>T | ||
| XM_011509365.1:c.2307C>T | XP_011507667.1:p.Arg769= | |
| XM_011509366.1:c.2307C>T | XP_011507668.1:p.Arg769= | |
| XM_011509367.1:c.2307C>T | XP_011507669.1:p.Arg769= | |
| XM_011509368.1:c.1725C>T | XP_011507670.1:p.Arg575= | |
| XM_011509369.1:c.750C>T | XP_011507671.1:p.Arg250= | |
| XM_011509365.2:c.2307C>T | XP_011507667.1:p.Arg769= | |
| XM_011509369.2:c.750C>T | XP_011507671.1:p.Arg250= | |
| XM_017000851.1:c.1464C>T | XP_016856340.1:p.Arg488= | |
| XM_017000852.1:c.2307C>T | XP_016856341.1:p.Arg769= | |
| NM_201253.3:c.2307C>T MANE Select | NP_957705.1:p.Arg769= | |
| NM_001193640.2:c.1971C>T | NP_001180569.1:p.Arg657= | |
| NM_001257965.2:c.2100C>T | NP_001244894.1:p.Arg700= | |
| NR_047563.2:n.2260C>T | ||
| NR_047564.2:n.2468C>T | ||
| NM_001257966.2:c.2128+5676C>T | NP_001244895.1:n.2128+5676C>T |