Linked Data
dbSNP Id:
rs1062577
gnomAD v2:
6-152423905-T-A
gnomAD v3:
6-152102770-T-A
gnomAD v4:
6-152102770-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152102770T>A , CM000668.2:g.152102770T>A | GRCh38 |
| NC_000006.11:g.152423905T>A , CM000668.1:g.152423905T>A | GRCh37 |
| NC_000006.10:g.152465598T>A | NCBI36 |
| NG_008493.1:g.417275T>A | |
| NG_008493.2:g.451080T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206249.8:c.*3804T>A MANE Select | ENSP00000206249.3:n.*3804T>A | |
| ENST00000641399.1:n.1070+3850T>A | ||
| ENST00000206249.7:c.*3804T>A | ENSP00000206249.3:n.*3804T>A | |
| ENST00000427531.6:c.851-22496T>A | ENSP00000394721.2:n.851-22496T>A | |
| ENST00000440973.5:c.*3804T>A | ENSP00000405330.1:n.*3804T>A | |
| ENST00000443427.5:c.*3804T>A | ENSP00000387500.1:n.*3804T>A | |
| NM_000125.3:c.*3804T>A | NP_000116.2:n.*3804T>A | |
| NM_001122740.1:c.*3804T>A | NP_001116212.1:n.*3804T>A | |
| NM_001122741.1:c.*3804T>A | NP_001116213.1:n.*3804T>A | |
| NM_001122742.1:c.*3804T>A | NP_001116214.1:n.*3804T>A | |
| NM_001291230.1:c.*3804T>A | NP_001278159.1:n.*3804T>A | |
| NM_001291241.1:c.*3804T>A | NP_001278170.1:n.*3804T>A | |
| XM_006715374.2:c.*4007T>A | XP_006715437.1:n.*4007T>A | |
| XM_006715375.2:c.*3804T>A | XP_006715438.1:n.*3804T>A | |
| XM_011535543.1:c.*3804T>A | XP_011533845.1:n.*3804T>A | |
| XM_011535544.1:c.*3804T>A | XP_011533846.1:n.*3804T>A | |
| XM_011535545.1:c.*3804T>A | XP_011533847.1:n.*3804T>A | |
| XM_011535546.1:c.*3804T>A | XP_011533848.1:n.*3804T>A | |
| XM_011535548.1:c.*3804T>A | XP_011533850.1:n.*3804T>A | |
| XM_011535549.1:c.*3804T>A | XP_011533851.1:n.*3804T>A | |
| NM_001328100.1:c.851-22496T>A | NP_001315029.1:n.851-22496T>A | |
| XM_006715374.3:c.*4007T>A | XP_006715437.1:n.*4007T>A | |
| NM_000125.4:c.*3804T>A MANE Select | NP_000116.2:n.*3804T>A | |
| NM_001328100.2:c.851-22496T>A | NP_001315029.1:n.851-22496T>A | |
| NM_001122740.2:c.*3804T>A | NP_001116212.1:n.*3804T>A | |
| NM_001122741.2:c.*3804T>A | NP_001116213.1:n.*3804T>A | |
| NM_001122742.2:c.*3804T>A | NP_001116214.1:n.*3804T>A | |
| NM_001291230.2:c.*3804T>A | NP_001278159.1:n.*3804T>A | |
| NM_001291241.2:c.*3804T>A | NP_001278170.1:n.*3804T>A | |
| NM_001385568.1:c.*3804T>A | NP_001372497.1:n.*3804T>A | |
| NM_001385569.1:c.*3804T>A | NP_001372498.1:n.*3804T>A | |
| NM_001385570.1:c.*4007T>A | NP_001372499.1:n.*4007T>A | |
| NM_001385571.1:c.*4007T>A | NP_001372500.1:n.*4007T>A | |
| NM_001385572.1:c.*4007T>A | NP_001372501.1:n.*4007T>A |