Linked Data
ClinVar Variation Id:
1407017
ClinVar RCV Id:
RCV001918219
dbSNP Id:
rs528781963
ExAC:
1:197396832 G / A
gnomAD v2:
1-197396832-G-A
gnomAD v3:
1-197427702-G-A
gnomAD v4:
1-197427702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427702G>A , CM000663.2:g.197427702G>A | GRCh38 |
| NC_000001.10:g.197396832G>A , CM000663.1:g.197396832G>A | GRCh37 |
| NC_000001.9:g.195663455G>A | NCBI36 |
| NG_008483.1:g.164425G>A | |
| NG_008483.2:g.231241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2377G>A MANE Select | ENSP00000356370.3:p.Val793Ile | |
| ENST00000638467.1:c.2377G>A | ENSP00000491102.1:p.Val793Ile | |
| ENST00000681519.1:c.1258G>A | ENSP00000505267.1:p.Val420Ile | |
| ENST00000367397.1:c.520G>A | ENSP00000356367.1:p.Val174Ile | |
| ENST00000367399.6:c.2041G>A | ENSP00000356369.2:p.Val681Ile | |
| ENST00000367400.7:c.2377G>A | ENSP00000356370.3:p.Val793Ile | |
| ENST00000480086.2:n.278G>A | ||
| ENST00000484075.5:c.2377G>A | ENSP00000433932.1:p.Val793Ile | |
| ENST00000535699.5:c.2170G>A | ENSP00000438786.1:p.Val724Ile | |
| ENST00000538660.5:c.2128+5746G>A | ENSP00000438091.1:n.2128+5746G>A | |
| NM_001193640.1:c.2041G>A | NP_001180569.1:p.Val681Ile | |
| NM_001257965.1:c.2170G>A | NP_001244894.1:p.Val724Ile | |
| NM_001257966.1:c.2128+5746G>A | NP_001244895.1:n.2128+5746G>A | |
| NM_201253.2:c.2377G>A | NP_957705.1:p.Val793Ile | |
| NR_047563.1:n.2378G>A | ||
| NR_047564.1:n.2586G>A | ||
| XM_011509365.1:c.2377G>A | XP_011507667.1:p.Val793Ile | |
| XM_011509366.1:c.2377G>A | XP_011507668.1:p.Val793Ile | |
| XM_011509367.1:c.2377G>A | XP_011507669.1:p.Val793Ile | |
| XM_011509368.1:c.1795G>A | XP_011507670.1:p.Val599Ile | |
| XM_011509369.1:c.820G>A | XP_011507671.1:p.Val274Ile | |
| XM_011509365.2:c.2377G>A | XP_011507667.1:p.Val793Ile | |
| XM_011509369.2:c.820G>A | XP_011507671.1:p.Val274Ile | |
| XM_017000851.1:c.1534G>A | XP_016856340.1:p.Val512Ile | |
| XM_017000852.1:c.2377G>A | XP_016856341.1:p.Val793Ile | |
| NM_201253.3:c.2377G>A MANE Select | NP_957705.1:p.Val793Ile | |
| NM_001193640.2:c.2041G>A | NP_001180569.1:p.Val681Ile | |
| NM_001257965.2:c.2170G>A | NP_001244894.1:p.Val724Ile | |
| NR_047563.2:n.2330G>A | ||
| NR_047564.2:n.2538G>A | ||
| NM_001257966.2:c.2128+5746G>A | NP_001244895.1:n.2128+5746G>A |