Linked Data
dbSNP Id:
rs781405059
ExAC:
1:196716245 G / A
gnomAD v2:
1-196716245-G-A
gnomAD v3:
1-196747115-G-A
gnomAD v4:
1-196747115-G-A
COSMIC:
COSM1320607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747115G>A , CM000663.2:g.196747115G>A | GRCh38 |
| NC_000001.10:g.196716245G>A , CM000663.1:g.196716245G>A | GRCh37 |
| NC_000001.9:g.194982868G>A | NCBI36 |
| NG_007259.1:g.100105G>A , LRG_47:g.100105G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4526G>A | ||
| ENST00000695970.1:c.3324G>A | ENSP00000512297.1:p.Pro1108= | |
| ENST00000695971.1:c.3477G>A | ENSP00000512298.1:p.Pro1159= | |
| ENST00000695972.1:c.*575G>A | ENSP00000512299.1:n.*575G>A | |
| ENST00000695973.1:c.*1862G>A | ENSP00000512300.1:n.*1862G>A | |
| ENST00000695974.1:c.3321G>A | ENSP00000512301.1:p.Pro1107= | |
| ENST00000695975.1:c.*1625G>A | ENSP00000512302.1:n.*1625G>A | |
| ENST00000695976.1:c.3309G>A | ENSP00000512303.1:p.Pro1103= | |
| ENST00000695981.1:c.3498G>A | ENSP00000512306.1:p.Pro1166= | |
| ENST00000695984.1:c.1506G>A | ENSP00000512309.1:p.Pro502= | |
| ENST00000695986.1:c.*3149G>A | ENSP00000512311.1:n.*3149G>A | |
| ENST00000695990.1:n.532G>A | ||
| ENST00000696026.1:c.*1780G>A | ENSP00000512335.1:n.*1780G>A | |
| ENST00000696027.1:c.3492G>A | ENSP00000512336.1:p.Pro1164= | |
| ENST00000696028.1:c.3426G>A | ENSP00000512337.1:p.Pro1142= | |
| ENST00000696029.1:c.3492G>A | ENSP00000512338.1:p.Pro1164= | |
| ENST00000696031.1:c.*3016G>A | ENSP00000512340.1:n.*3016G>A | |
| ENST00000696032.1:c.3498G>A | ENSP00000512341.1:p.Pro1166= | |
| ENST00000696033.1:c.1160-32682G>A | ENSP00000512342.1:n.1160-32682G>A | |
| ENST00000367429.9:c.3498G>A MANE Select | ENSP00000356399.4:p.Pro1166= | |
| ENST00000367429.8:c.3498G>A | ENSP00000356399.4:p.Pro1166= | |
| ENST00000466229.5:n.6596G>A | ||
| NM_000186.3:c.3498G>A , LRG_47t1:c.3498G>A | NP_000177.2:p.Pro1166= | |
| XR_001737134.2:n.3684G>A | ||
| NM_000186.4:c.3498G>A MANE Select | NP_000177.2:p.Pro1166= |