Linked Data
dbSNP Id:
rs1560023927
gnomAD v2:
3-165548831-T-G
gnomAD v4:
3-165831043-T-G
MyVariant Identifiers:
chr3:g.165548831_165548835delinsGGAAA (hg19)
chr3:g.165831043_165831047delinsGGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165831043T>G , CM000665.2:g.165831043T>G | GRCh38 |
| NC_000003.11:g.165548831T>G , CM000665.1:g.165548831T>G | GRCh37 |
| NC_000003.10:g.167031525T>G | NCBI36 |
| NG_009031.1:g.11423A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.-8-2A>C MANE Select | ENSP00000264381.3:n.-8-2A>C | |
| ENST00000264381.7:c.-8-2A>C | ENSP00000264381.3:n.-8-2A>C | |
| ENST00000479451.5:c.107+6271A>C | ENSP00000418325.1:n.107+6271A>C | |
| ENST00000482958.1:c.-8-2A>C | ENSP00000419804.1:n.-8-2A>C | |
| ENST00000488954.1:c.107+6271A>C | ENSP00000418504.1:n.107+6271A>C | |
| ENST00000497011.5:c.-8-2A>C | ENSP00000419505.1:n.-8-2A>C | |
| NM_000055.2:c.-8-2A>C | NP_000046.1:n.-8-2A>C | |
| XM_005247685.1:c.116-2A>C | XP_005247742.1:n.116-2A>C | |
| NM_000055.3:c.-8-2A>C | NP_000046.1:n.-8-2A>C | |
| NR_137635.1:n.159+6271A>C | ||
| NR_137636.1:n.160-2A>C | ||
| NM_000055.4:c.-8-2A>C MANE Select | NP_000046.1:n.-8-2A>C | |
| NR_137635.2:n.110+6271A>C | ||
| NR_137636.2:n.111-2A>C |