Linked Data
dbSNP Id:
rs773048583
ExAC:
1:196712631 G / C
gnomAD v2:
1-196712631-G-C
gnomAD v4:
1-196743501-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743501G>C , CM000663.2:g.196743501G>C | GRCh38 |
| NC_000001.10:g.196712631G>C , CM000663.1:g.196712631G>C | GRCh37 |
| NC_000001.9:g.194979254G>C | NCBI36 |
| NG_007259.1:g.96491G>C , LRG_47:g.96491G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4211G>C | ||
| ENST00000695970.1:c.3009G>C | ENSP00000512297.1:p.Ser1003= | |
| ENST00000695971.1:c.3162G>C | ENSP00000512298.1:p.Ser1054= | |
| ENST00000695972.1:c.*260G>C | ENSP00000512299.1:n.*260G>C | |
| ENST00000695973.1:c.*1547G>C | ENSP00000512300.1:n.*1547G>C | |
| ENST00000695974.1:c.3006G>C | ENSP00000512301.1:p.Ser1002= | |
| ENST00000695975.1:c.*1310G>C | ENSP00000512302.1:n.*1310G>C | |
| ENST00000695976.1:c.2994G>C | ENSP00000512303.1:p.Ser998= | |
| ENST00000695981.1:c.3183G>C | ENSP00000512306.1:p.Ser1061= | |
| ENST00000695984.1:c.1191G>C | ENSP00000512309.1:p.Ser397= | |
| ENST00000695986.1:c.*2834G>C | ENSP00000512311.1:n.*2834G>C | |
| ENST00000696026.1:c.*1465G>C | ENSP00000512335.1:n.*1465G>C | |
| ENST00000696027.1:c.3177G>C | ENSP00000512336.1:p.Ser1059= | |
| ENST00000696028.1:c.3111G>C | ENSP00000512337.1:p.Ser1037= | |
| ENST00000696029.1:c.3177G>C | ENSP00000512338.1:p.Ser1059= | |
| ENST00000696031.1:c.*2701G>C | ENSP00000512340.1:n.*2701G>C | |
| ENST00000696032.1:c.3183G>C | ENSP00000512341.1:p.Ser1061= | |
| ENST00000696033.1:c.1160-36296G>C | ENSP00000512342.1:n.1160-36296G>C | |
| ENST00000367429.9:c.3183G>C MANE Select | ENSP00000356399.4:p.Ser1061= | |
| ENST00000367429.8:c.3183G>C | ENSP00000356399.4:p.Ser1061= | |
| ENST00000466229.5:n.6281G>C | ||
| NM_000186.3:c.3183G>C , LRG_47t1:c.3183G>C | NP_000177.2:p.Ser1061= | |
| XR_001737134.2:n.3369G>C | ||
| NM_000186.4:c.3183G>C MANE Select | NP_000177.2:p.Ser1061= |