Linked Data
dbSNP Id:
rs9985399
gnomAD v2:
3-40008634-T-C
gnomAD v3:
3-39967143-T-C
gnomAD v4:
3-39967143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39967143T>C , CM000665.2:g.39967143T>C | GRCh38 |
| NC_000003.11:g.40008634T>C , CM000665.1:g.40008634T>C | GRCh37 |
| NC_000003.10:g.39983638T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302541.11:c.110+66217T>C MANE Select | ENSP00000301972.6:n.110+66217T>C | |
| ENST00000302541.10:c.110+66217T>C | ENSP00000301972.6:n.110+66217T>C | |
| ENST00000396217.7:c.-21+66217T>C | ENSP00000379519.3:n.-21+66217T>C | |
| ENST00000425621.5:c.110+66217T>C | ENSP00000389323.1:n.110+66217T>C | |
| ENST00000444716.5:c.110+66217T>C | ENSP00000398665.1:n.110+66217T>C | |
| ENST00000458292.5:c.110+66217T>C | ENSP00000413392.1:n.110+66217T>C | |
| ENST00000458441.5:c.110+66217T>C | ENSP00000400916.1:n.110+66217T>C | |
| ENST00000475082.5:n.369+66217T>C | ||
| NM_001284423.1:c.110+66217T>C | NP_001271352.1:n.110+66217T>C | |
| NM_001284424.1:c.110+66217T>C | NP_001271353.1:n.110+66217T>C | |
| NM_001284425.1:c.-21+66217T>C | NP_001271354.1:n.-21+66217T>C | |
| NM_015460.3:c.110+66217T>C | NP_056275.2:n.110+66217T>C | |
| NR_104316.1:n.397+66217T>C | ||
| XM_011533575.1:c.110+66217T>C | XP_011531877.1:n.110+66217T>C | |
| NM_015460.4:c.110+66217T>C MANE Select | NP_056275.2:n.110+66217T>C | |
| NM_001284424.2:c.110+66217T>C | NP_001271353.1:n.110+66217T>C | |
| NR_104316.2:n.448+66217T>C | ||
| NM_001284423.2:c.110+66217T>C | NP_001271352.1:n.110+66217T>C | |
| NM_001284425.2:c.-21+66217T>C | NP_001271354.1:n.-21+66217T>C |