Linked Data
dbSNP Id:
rs6802220
gnomAD v2:
3-30659652-G-A
gnomAD v3:
3-30618160-G-A
gnomAD v4:
3-30618160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30618160G>A , CM000665.2:g.30618160G>A | GRCh38 |
| NC_000003.11:g.30659652G>A , CM000665.1:g.30659652G>A | GRCh37 |
| NC_000003.10:g.30634656G>A | NCBI36 |
| NG_007490.1:g.16659G>A , LRG_779:g.16659G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.94+11183G>A MANE Select | ENSP00000295754.5:n.94+11183G>A | |
| ENST00000673250.1:n.143+3454G>A | ||
| ENST00000295754.9:c.94+11183G>A | ENSP00000295754.5:n.94+11183G>A | |
| ENST00000359013.4:c.95-5039G>A | ENSP00000351905.4:n.95-5039G>A | |
| NM_001024847.2:c.95-5039G>A , LRG_779t1:c.95-5039G>A | NP_001020018.1:n.95-5039G>A | |
| NM_003242.5:c.94+11183G>A | NP_003233.4:n.94+11183G>A | |
| XM_011534043.1:c.46+3454G>A | XP_011532345.1:n.46+3454G>A | |
| XM_011534044.1:c.46+3454G>A | XP_011532346.1:n.46+3454G>A | |
| XM_011534045.1:c.-12+11567G>A | XP_011532347.1:n.-12+11567G>A | |
| XM_011534043.2:c.46+3454G>A | XP_011532345.1:n.46+3454G>A | |
| XM_011534045.3:c.-12+11567G>A | XP_011532347.1:n.-12+11567G>A | |
| NM_003242.6:c.94+11183G>A MANE Select | NP_003233.4:n.94+11183G>A |