Linked Data
dbSNP Id:
rs1265845888
gnomAD v2:
1-196716025-C-A
gnomAD v3:
1-196746895-C-A
gnomAD v4:
1-196746895-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196746895C>A , CM000663.2:g.196746895C>A | GRCh38 |
| NC_000001.10:g.196716025C>A , CM000663.1:g.196716025C>A | GRCh37 |
| NC_000001.9:g.194982648C>A | NCBI36 |
| NG_007259.1:g.99885C>A , LRG_47:g.99885C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4522-216C>A | ||
| ENST00000695970.1:c.3320-216C>A | ENSP00000512297.1:n.3320-216C>A | |
| ENST00000695971.1:c.3473-216C>A | ENSP00000512298.1:n.3473-216C>A | |
| ENST00000695972.1:c.*571-216C>A | ENSP00000512299.1:n.*571-216C>A | |
| ENST00000695973.1:c.*1858-216C>A | ENSP00000512300.1:n.*1858-216C>A | |
| ENST00000695974.1:c.3317-216C>A | ENSP00000512301.1:n.3317-216C>A | |
| ENST00000695975.1:c.*1621-216C>A | ENSP00000512302.1:n.*1621-216C>A | |
| ENST00000695976.1:c.3305-216C>A | ENSP00000512303.1:n.3305-216C>A | |
| ENST00000695981.1:c.3494-216C>A | ENSP00000512306.1:n.3494-216C>A | |
| ENST00000695984.1:c.1502-216C>A | ENSP00000512309.1:n.1502-216C>A | |
| ENST00000695986.1:c.*3145-216C>A | ENSP00000512311.1:n.*3145-216C>A | |
| ENST00000695990.1:n.528-216C>A | ||
| ENST00000696026.1:c.*1776-216C>A | ENSP00000512335.1:n.*1776-216C>A | |
| ENST00000696027.1:c.3488-216C>A | ENSP00000512336.1:n.3488-216C>A | |
| ENST00000696028.1:c.3422-216C>A | ENSP00000512337.1:n.3422-216C>A | |
| ENST00000696029.1:c.3488-216C>A | ENSP00000512338.1:n.3488-216C>A | |
| ENST00000696031.1:c.*3012-216C>A | ENSP00000512340.1:n.*3012-216C>A | |
| ENST00000696032.1:c.3494-216C>A | ENSP00000512341.1:n.3494-216C>A | |
| ENST00000696033.1:c.1160-32902C>A | ENSP00000512342.1:n.1160-32902C>A | |
| ENST00000367429.9:c.3494-216C>A MANE Select | ENSP00000356399.4:n.3494-216C>A | |
| ENST00000367429.8:c.3494-216C>A | ENSP00000356399.4:n.3494-216C>A | |
| ENST00000466229.5:n.6592-216C>A | ||
| NM_000186.3:c.3494-216C>A , LRG_47t1:c.3494-216C>A | NP_000177.2:n.3494-216C>A | |
| XR_001737134.2:n.3680-216C>A | ||
| NM_000186.4:c.3494-216C>A MANE Select | NP_000177.2:n.3494-216C>A |