Linked Data
ClinVar Variation Id:
1444143
ClinVar RCV Id:
RCV001981678
dbSNP Id:
rs144177631
gnomAD v4:
14-102039676-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102039676G>C , CM000676.2:g.102039676G>C | GRCh38 |
| NC_000014.8:g.102506013G>C , CM000676.1:g.102506013G>C | GRCh37 |
| NC_000014.7:g.101575766G>C | NCBI36 |
| NG_008777.1:g.80149G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3093G>C | ENSP00000506816.1:n.*3093G>C | |
| ENST00000360184.10:c.11634G>C MANE Select | ENSP00000348965.4:p.Gln3878His | |
| ENST00000553701.1:n.347-2907C>G | ||
| ENST00000556139.2:n.186G>C | ||
| ENST00000557242.1:n.329-2907C>G | ||
| ENST00000557551.1:n.112-2907C>G | ||
| ENST00000643437.1:n.1588G>C | ||
| ENST00000643829.1:n.1463G>C | ||
| ENST00000644794.1:n.1753G>C | ||
| ENST00000644881.2:c.11634G>C | ENSP00000495022.2:p.Gln3878His | |
| ENST00000645039.2:c.11634G>C | ENSP00000495220.2:p.Gln3878His | |
| ENST00000645085.1:n.131G>C | ||
| ENST00000645149.2:c.11487G>C | ENSP00000495944.2:p.Gln3829His | |
| ENST00000645697.1:n.2297G>C | ||
| ENST00000647204.2:n.875G>C | ||
| ENST00000647366.1:n.5188G>C | ||
| ENST00000679486.1:c.11634G>C | ENSP00000506688.1:p.Gln3878His | |
| ENST00000679629.1:c.11634G>C | ENSP00000505589.1:p.Gln3878His | |
| ENST00000679720.1:c.11634G>C | ENSP00000505938.1:p.Gln3878His | |
| ENST00000679910.1:c.*2716G>C | ENSP00000506521.1:n.*2716G>C | |
| ENST00000680120.1:c.11634G>C | ENSP00000504863.1:p.Gln3878His | |
| ENST00000680200.1:c.*893G>C | ENSP00000506166.1:n.*893G>C | |
| ENST00000680313.1:c.11634G>C | ENSP00000506208.1:p.Gln3878His | |
| ENST00000680423.1:c.*3365G>C | ENSP00000505483.1:n.*3365G>C | |
| ENST00000680715.1:c.11634G>C | ENSP00000505332.1:p.Gln3878His | |
| ENST00000681010.1:c.11634G>C | ENSP00000505201.1:p.Gln3878His | |
| ENST00000681066.1:c.11634G>C | ENSP00000506344.1:p.Gln3878His | |
| ENST00000681123.1:c.11634G>C | ENSP00000506124.1:p.Gln3878His | |
| ENST00000681283.1:c.*346G>C | ENSP00000505667.1:n.*346G>C | |
| ENST00000681536.1:c.*4833G>C | ENSP00000505821.1:n.*4833G>C | |
| ENST00000681574.1:c.11634G>C | ENSP00000505523.1:p.Gln3878His | |
| ENST00000681822.1:c.11634G>C | ENSP00000505744.1:p.Gln3878His | |
| ENST00000360184.8:c.11634G>C | ENSP00000348965.4:p.Gln3878His | |
| ENST00000556139.1:n.186G>C | ||
| NM_001376.4:c.11634G>C | NP_001367.2:p.Gln3878His | |
| NM_001376.5:c.11634G>C MANE Select | NP_001367.2:p.Gln3878His |