Linked Data
dbSNP Id:
rs757048147
ExAC:
11:65635721 T / C
gnomAD v2:
11-65635721-T-C
gnomAD v4:
11-65868250-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868250T>C , CM000673.2:g.65868250T>C | GRCh38 |
| NC_000011.9:g.65635721T>C , CM000673.1:g.65635721T>C | GRCh37 |
| NC_000011.8:g.65392297T>C | NCBI36 |
| NG_012304.2:g.9685A>G | |
| NG_053116.1:g.13189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.974+45A>G MANE Select | ENSP00000309953.6:n.974+45A>G | |
| ENST00000307998.10:c.974+45A>G | ENSP00000309953.6:n.974+45A>G | |
| ENST00000525392.1:n.135+45A>G | ||
| ENST00000526628.5:n.1540+45A>G | ||
| ENST00000528176.5:c.974+45A>G | ENSP00000434151.1:n.974+45A>G | |
| ENST00000528409.1:n.207+56A>G | ||
| ENST00000530806.5:c.-25+45A>G | ENSP00000436526.1:n.-25+45A>G | |
| ENST00000531005.5:n.1968+45A>G | ||
| ENST00000531645.5:c.122+45A>G | ENSP00000436521.1:n.122+45A>G | |
| ENST00000531972.5:c.974+45A>G | ENSP00000435295.1:n.974+45A>G | |
| ENST00000532084.5:n.400+45A>G | ||
| NM_016938.4:c.974+45A>G | NP_058634.4:n.974+45A>G | |
| NR_037718.1:n.1233+45A>G | ||
| NM_016938.5:c.974+45A>G MANE Select | NP_058634.4:n.974+45A>G | |
| NR_037718.2:n.1099+45A>G |