Linked Data
dbSNP Id:
rs1375144
gnomAD v2:
2-116241186-G-A
gnomAD v3:
2-115483610-G-A
gnomAD v4:
2-115483610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.115483610G>A , CM000664.2:g.115483610G>A | GRCh38 |
| NC_000002.11:g.116241186G>A , CM000664.1:g.116241186G>A | GRCh37 |
| NC_000002.10:g.115957656G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000410059.6:c.272-15900G>A MANE Select | ENSP00000386565.1:n.272-15900G>A | |
| ENST00000310323.12:c.251-15900G>A | ENSP00000309066.8:n.251-15900G>A | |
| ENST00000393146.6:c.260-15900G>A | ENSP00000376854.2:n.260-15900G>A | |
| ENST00000393147.6:c.284-15900G>A | ENSP00000376855.2:n.284-15900G>A | |
| ENST00000409163.5:c.122-15900G>A | ENSP00000387038.1:n.122-15900G>A | |
| ENST00000410059.5:c.272-15900G>A | ENSP00000386565.1:n.272-15900G>A | |
| ENST00000419287.1:c.122-15900G>A | ENSP00000402499.1:n.122-15900G>A | |
| ENST00000429914.5:c.136-15900G>A | ENSP00000408535.1:n.136-15900G>A | |
| ENST00000436732.5:c.122-15900G>A | ENSP00000391092.1:n.122-15900G>A | |
| ENST00000461250.5:n.866-15900G>A | ||
| ENST00000486885.5:n.330-15900G>A | ||
| ENST00000488208.1:n.94-15900G>A | ||
| NM_001004360.3:c.251-15900G>A | NP_001004360.2:n.251-15900G>A | |
| NM_001178034.1:c.284-15900G>A | NP_001171505.1:n.284-15900G>A | |
| NM_001178036.1:c.122-15900G>A | NP_001171507.1:n.122-15900G>A | |
| NM_001178037.1:c.260-15900G>A | NP_001171508.1:n.260-15900G>A | |
| NM_020868.3:c.272-15900G>A | NP_065919.2:n.272-15900G>A | |
| XM_011511526.1:c.251-15900G>A | XP_011509828.1:n.251-15900G>A | |
| XM_011511527.1:c.122-15900G>A | XP_011509829.1:n.122-15900G>A | |
| XM_011511528.1:c.20-15900G>A | XP_011509830.1:n.20-15900G>A | |
| NM_001321905.1:c.323-15900G>A | NP_001308834.1:n.323-15900G>A | |
| NM_001321906.1:c.251-15900G>A | NP_001308835.1:n.251-15900G>A | |
| NM_001321907.1:c.272-15900G>A | NP_001308836.1:n.272-15900G>A | |
| NM_001321908.1:c.182-15900G>A | NP_001308837.1:n.182-15900G>A | |
| NM_001321909.1:c.155-15900G>A | NP_001308838.1:n.155-15900G>A | |
| NM_001321910.1:c.122-15900G>A | NP_001308839.1:n.122-15900G>A | |
| NM_001321911.1:c.122-15900G>A | NP_001308840.1:n.122-15900G>A | |
| NM_001321912.1:c.122-15900G>A | NP_001308841.1:n.122-15900G>A | |
| NM_001321913.1:c.-491-15900G>A | NP_001308842.1:n.-491-15900G>A | |
| NM_001321914.1:c.-486-15900G>A | NP_001308843.1:n.-486-15900G>A | |
| NM_020868.4:c.272-15900G>A | NP_065919.2:n.272-15900G>A | |
| XM_017004566.1:c.149-15900G>A | XP_016860055.1:n.149-15900G>A | |
| XM_024453023.1:c.251-15900G>A | XP_024308791.1:n.251-15900G>A | |
| NM_001004360.4:c.251-15900G>A | NP_001004360.3:n.251-15900G>A | |
| NM_001178036.2:c.122-15900G>A | NP_001171507.2:n.122-15900G>A | |
| NM_001178037.2:c.260-15900G>A | NP_001171508.2:n.260-15900G>A | |
| NM_001321905.2:c.323-15900G>A | NP_001308834.2:n.323-15900G>A | |
| NM_001321907.2:c.272-15900G>A | NP_001308836.2:n.272-15900G>A | |
| NM_001321908.2:c.182-15900G>A | NP_001308837.2:n.182-15900G>A | |
| NM_001321909.2:c.155-15900G>A | NP_001308838.2:n.155-15900G>A | |
| NM_001321910.2:c.122-15900G>A | NP_001308839.2:n.122-15900G>A | |
| NM_001321911.2:c.122-15900G>A | NP_001308840.2:n.122-15900G>A | |
| NM_001321912.2:c.122-15900G>A | NP_001308841.2:n.122-15900G>A | |
| NM_001321913.2:c.-491-15900G>A | NP_001308842.2:n.-491-15900G>A | |
| NM_020868.6:c.272-15900G>A MANE Select | NP_065919.3:n.272-15900G>A | |
| NM_001004360.5:c.251-15900G>A | NP_001004360.3:n.251-15900G>A | |
| NM_001178036.3:c.122-15900G>A | NP_001171507.2:n.122-15900G>A | |
| NM_001178037.3:c.260-15900G>A | NP_001171508.2:n.260-15900G>A | |
| NM_001321905.3:c.323-15900G>A | NP_001308834.2:n.323-15900G>A | |
| NM_001321906.2:c.251-15900G>A | NP_001308835.2:n.251-15900G>A | |
| NM_001321907.3:c.272-15900G>A | NP_001308836.2:n.272-15900G>A | |
| NM_001321908.3:c.182-15900G>A | NP_001308837.2:n.182-15900G>A | |
| NM_001321909.3:c.155-15900G>A | NP_001308838.2:n.155-15900G>A | |
| NM_001321910.3:c.122-15900G>A | NP_001308839.2:n.122-15900G>A | |
| NM_001321911.3:c.122-15900G>A | NP_001308840.2:n.122-15900G>A | |
| NM_001321912.3:c.122-15900G>A | NP_001308841.2:n.122-15900G>A | |
| NM_001321913.3:c.-491-15900G>A | NP_001308842.2:n.-491-15900G>A | |
| NM_001321914.2:c.-486-15900G>A | NP_001308843.2:n.-486-15900G>A | |
| NM_001399849.1:c.122-15900G>A | NP_001386778.1:n.122-15900G>A | |
| NM_001399850.1:c.-521-15900G>A | NP_001386779.1:n.-521-15900G>A | |
| NM_001399851.1:c.20-15900G>A | NP_001386780.1:n.20-15900G>A |