Linked Data
dbSNP Id:
rs2982552
gnomAD v2:
6-152059563-G-A
gnomAD v3:
6-151738428-G-A
gnomAD v4:
6-151738428-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151738428G>A , CM000668.2:g.151738428G>A | GRCh38 |
| NC_000006.11:g.152059563G>A , CM000668.1:g.152059563G>A | GRCh37 |
| NC_000006.10:g.152101256G>A | NCBI36 |
| NG_008493.1:g.52933G>A | |
| NG_008493.2:g.86738G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404742.5:c.-71+36423G>A | ENSP00000385373.1:n.-71+36423G>A | |
| ENST00000440973.5:c.-71+36423G>A | ENSP00000405330.1:n.-71+36423G>A | |
| ENST00000473497.5:n.204+36423G>A | ||
| NM_001122742.1:c.-71+36423G>A | NP_001116214.1:n.-71+36423G>A | |
| XM_006715374.2:c.-71+36423G>A | XP_006715437.1:n.-71+36423G>A | |
| XM_011535543.1:c.-184-19052G>A | XP_011533845.1:n.-184-19052G>A | |
| XM_011535547.1:c.-71+36423G>A | XP_011533849.1:n.-71+36423G>A | |
| XM_006715374.3:c.-71+36423G>A | XP_006715437.1:n.-71+36423G>A | |
| XM_011535543.2:c.-184-19052G>A | XP_011533845.1:n.-184-19052G>A | |
| XM_011535547.2:c.-71+36423G>A | XP_011533849.1:n.-71+36423G>A | |
| XM_017010376.1:c.-71+36423G>A | XP_016865865.1:n.-71+36423G>A | |
| XM_017010377.1:c.-71+36423G>A | XP_016865866.1:n.-71+36423G>A | |
| XM_017010378.1:c.-71+36423G>A | XP_016865867.1:n.-71+36423G>A | |
| XM_017010379.1:c.-71+36423G>A | XP_016865868.1:n.-71+36423G>A | |
| XM_017010380.1:c.-70-69415G>A | XP_016865869.1:n.-70-69415G>A | |
| XR_001743223.2:n.300+36423G>A | ||
| XR_002956266.1:n.300+36423G>A | ||
| NM_001122742.2:c.-71+36423G>A | NP_001116214.1:n.-71+36423G>A | |
| NM_001385568.1:c.-71+36423G>A | NP_001372497.1:n.-71+36423G>A | |
| NM_001385570.1:c.-71+36423G>A | NP_001372499.1:n.-71+36423G>A |