Linked Data
dbSNP Id:
rs780199519
ExAC:
X:70618413 A / G
gnomAD v2:
X-70618413-A-G
gnomAD v4:
X-71398563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71398563A>G , CM000685.2:g.71398563A>G | GRCh38 |
| NC_000023.10:g.70618413A>G , CM000685.1:g.70618413A>G | GRCh37 |
| NC_000023.9:g.70535138A>G | NCBI36 |
| NG_012771.2:g.37300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276072.9:c.2907-9A>G | ENSP00000276072.5:n.2907-9A>G | |
| ENST00000483985.3:c.536-9A>G | ||
| ENST00000683202.1:c.3621-9A>G | ENSP00000507781.1:n.3621-9A>G | |
| ENST00000683668.1:c.2907-9A>G | ENSP00000507280.1:n.2907-9A>G | |
| ENST00000683782.1:c.3621-9A>G | ENSP00000506996.1:n.3621-9A>G | |
| ENST00000276072.8:c.215-9A>G | ||
| ENST00000373790.9:c.3558-9A>G | ENSP00000362895.5:n.3558-9A>G | |
| ENST00000423759.6:c.3621-9A>G MANE Select | ENSP00000406549.2:n.3621-9A>G | |
| ENST00000276072.7:c.3681-9A>G | ENSP00000276072.3:n.3681-9A>G | |
| ENST00000373790.8:c.3618-9A>G | ENSP00000362895.4:n.3618-9A>G | |
| ENST00000423759.5:c.3681-9A>G | ENSP00000406549.1:n.3681-9A>G | |
| ENST00000483985.2:c.350-9A>G | ||
| NM_001286074.1:c.3681-9A>G | NP_001273003.1:n.3681-9A>G | |
| NM_004606.4:c.3681-9A>G | NP_004597.2:n.3681-9A>G | |
| NM_138923.3:c.3618-9A>G | NP_620278.1:n.3618-9A>G | |
| NR_104387.1:n.3757-9A>G | ||
| NR_104388.1:n.3757-9A>G | ||
| NR_104389.1:n.3757-9A>G | ||
| NR_104390.1:n.3757-9A>G | ||
| NR_104391.1:n.3757-9A>G | ||
| NR_104392.1:n.3757-9A>G | ||
| NR_104393.1:n.3757-9A>G | ||
| NR_104394.1:n.3757-9A>G | ||
| NR_104395.1:n.3757-9A>G | ||
| XM_005262295.1:c.3681-9A>G | XP_005262352.1:n.3681-9A>G | |
| XM_005262296.1:c.3678-9A>G | XP_005262353.1:n.3678-9A>G | |
| XM_005262297.3:c.3618-9A>G | XP_005262354.1:n.3618-9A>G | |
| XM_006724682.2:c.3300-9A>G | XP_006724745.1:n.3300-9A>G | |
| XM_011531016.1:c.3681-9A>G | XP_011529318.1:n.3681-9A>G | |
| XR_938407.1:n.3691-9A>G | ||
| XM_005262297.4:c.3618-9A>G | XP_005262354.1:n.3618-9A>G | |
| XM_024452429.1:c.3300-9A>G | XP_024308197.1:n.3300-9A>G | |
| XM_024452430.1:c.3681-9A>G | XP_024308198.1:n.3681-9A>G | |
| NM_001286074.2:c.3621-9A>G | NP_001273003.2:n.3621-9A>G | |
| NM_004606.5:c.3621-9A>G MANE Select | NP_004597.3:n.3621-9A>G | |
| NM_138923.4:c.3558-9A>G | NP_620278.2:n.3558-9A>G | |
| NR_104387.2:n.3639-9A>G | ||
| NR_104388.2:n.3639-9A>G | ||
| NR_104389.2:n.3639-9A>G | ||
| NR_104390.2:n.3639-9A>G | ||
| NR_104391.2:n.3639-9A>G | ||
| NR_104392.2:n.3639-9A>G | ||
| NR_104393.2:n.3639-9A>G | ||
| NR_104394.2:n.3639-9A>G | ||
| NR_104395.2:n.3639-9A>G |