Linked Data
ClinVar Variation Id:
16550
ClinVar RCV Id:
RCV000018017
RCV000190297
RCV000274380
RCV000331871
RCV000374816
RCV001579191
RCV002293982
dbSNP Id:
rs800292
ExAC:
1:196642233 G / A
gnomAD v2:
1-196642233-G-A
gnomAD v3:
1-196673103-G-A
gnomAD v4:
1-196673103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196673103G>A , CM000663.2:g.196673103G>A | GRCh38 |
| NC_000001.10:g.196642233G>A , CM000663.1:g.196642233G>A | GRCh37 |
| NC_000001.9:g.194908856G>A | NCBI36 |
| NG_007259.1:g.26093G>A , LRG_47:g.26093G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359637.3:c.184G>A | ENSP00000352658.2:p.Val62Ile | |
| ENST00000470918.2:n.450G>A | ||
| ENST00000496761.2:n.247G>A | ||
| ENST00000695968.1:c.184G>A | ENSP00000512295.1:p.Val62Ile | |
| ENST00000695969.1:c.184G>A | ENSP00000512296.1:p.Val62Ile | |
| ENST00000695970.1:c.184G>A | ENSP00000512297.1:p.Val62Ile | |
| ENST00000695971.1:c.184G>A | ENSP00000512298.1:p.Val62Ile | |
| ENST00000695972.1:c.184G>A | ENSP00000512299.1:p.Val62Ile | |
| ENST00000695973.1:c.184G>A | ENSP00000512300.1:p.Val62Ile | |
| ENST00000695974.1:c.184G>A | ENSP00000512301.1:p.Val62Ile | |
| ENST00000695975.1:c.184G>A | ENSP00000512302.1:p.Val62Ile | |
| ENST00000695976.1:c.-6G>A | ENSP00000512303.1:n.-6G>A | |
| ENST00000695978.1:c.184G>A | ENSP00000512304.1:p.Val62Ile | |
| ENST00000695979.1:c.184G>A | ENSP00000512305.1:p.Val62Ile | |
| ENST00000695980.1:n.304G>A | ||
| ENST00000695981.1:c.184G>A | ENSP00000512306.1:p.Val62Ile | |
| ENST00000695983.1:c.184G>A | ENSP00000512308.1:p.Val62Ile | |
| ENST00000695984.1:c.184G>A | ENSP00000512309.1:p.Val62Ile | |
| ENST00000695986.1:c.184G>A | ENSP00000512311.1:p.Val62Ile | |
| ENST00000695987.1:c.-6G>A | ENSP00000512312.1:n.-6G>A | |
| ENST00000696018.1:n.268G>A | ||
| ENST00000696019.1:n.268G>A | ||
| ENST00000696020.1:n.268G>A | ||
| ENST00000696021.1:n.268G>A | ||
| ENST00000696022.1:n.268G>A | ||
| ENST00000696023.1:c.184G>A | ENSP00000512334.1:p.Val62Ile | |
| ENST00000696024.1:n.268G>A | ||
| ENST00000696025.1:n.268G>A | ||
| ENST00000696026.1:c.184G>A | ENSP00000512335.1:p.Val62Ile | |
| ENST00000696027.1:c.184G>A | ENSP00000512336.1:p.Val62Ile | |
| ENST00000696028.1:c.184G>A | ENSP00000512337.1:p.Val62Ile | |
| ENST00000696029.1:c.184G>A | ENSP00000512338.1:p.Val62Ile | |
| ENST00000696030.1:c.184G>A | ENSP00000512339.1:p.Val62Ile | |
| ENST00000696031.1:c.184G>A | ENSP00000512340.1:p.Val62Ile | |
| ENST00000696032.1:c.184G>A | ENSP00000512341.1:p.Val62Ile | |
| ENST00000696033.1:c.184G>A | ENSP00000512342.1:p.Val62Ile | |
| ENST00000367429.9:c.184G>A MANE Select | ENSP00000356399.4:p.Val62Ile | |
| ENST00000359637.2:c.184G>A | ENSP00000352658.2:p.Val62Ile | |
| ENST00000367429.8:c.184G>A | ENSP00000356399.4:p.Val62Ile | |
| ENST00000496761.1:n.246G>A | ||
| ENST00000630130.2:c.184G>A | ENSP00000487250.1:p.Val62Ile | |
| NM_000186.3:c.184G>A , LRG_47t1:c.184G>A | NP_000177.2:p.Val62Ile | |
| NM_001014975.2:c.184G>A | NP_001014975.1:p.Val62Ile | |
| XM_017001108.2:c.184G>A | XP_016856597.1:p.Val62Ile | |
| XR_001737134.2:n.269G>A | ||
| NM_000186.4:c.184G>A MANE Select | NP_000177.2:p.Val62Ile | |
| NM_001014975.3:c.184G>A | NP_001014975.1:p.Val62Ile |