Linked Data
dbSNP Id:
rs11947645
gnomAD v2:
4-151101672-G-A
gnomAD v3:
4-150180520-G-A
gnomAD v4:
4-150180520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150180520G>A , CM000666.2:g.150180520G>A | GRCh38 |
| NC_000004.11:g.151101672G>A , CM000666.1:g.151101672G>A | GRCh37 |
| NC_000004.10:g.151321122G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296550.12:c.757-12618G>A MANE Select | ENSP00000296550.7:n.757-12618G>A | |
| ENST00000296550.11:c.757-12618G>A | ENSP00000296550.7:n.757-12618G>A | |
| ENST00000302176.8:c.757-12618G>A | ENSP00000303887.8:n.757-12618G>A | |
| ENST00000411937.6:c.757-12618G>A | ENSP00000401916.2:n.757-12618G>A | |
| ENST00000506325.5:c.757-12618G>A | ENSP00000427235.1:n.757-12618G>A | |
| ENST00000507694.1:n.194+4884G>A | ||
| ENST00000635524.1:c.757-12618G>A | ENSP00000489372.1:n.757-12618G>A | |
| NM_001040260.3:c.757-12618G>A | NP_001035350.2:n.757-12618G>A | |
| NM_001040261.4:c.757-12618G>A | NP_001035351.4:n.757-12618G>A | |
| NR_036614.1:n.1511-12618G>A | ||
| XM_005262785.1:c.757-12618G>A | XP_005262842.1:n.757-12618G>A | |
| XM_005262786.1:c.757-12618G>A | XP_005262843.1:n.757-12618G>A | |
| XR_244621.1:n.1340-12618G>A | ||
| XM_005262785.3:c.757-12618G>A | XP_005262842.1:n.757-12618G>A | |
| XM_005262786.3:c.757-12618G>A | XP_005262843.1:n.757-12618G>A | |
| XM_017007832.2:c.757-12618G>A | XP_016863321.1:n.757-12618G>A | |
| XM_017007833.2:c.757-12618G>A | XP_016863322.1:n.757-12618G>A | |
| XM_024453913.1:c.757-12618G>A | XP_024309681.1:n.757-12618G>A | |
| XM_024453914.1:c.757-12618G>A | XP_024309682.1:n.757-12618G>A | |
| XM_024453915.1:c.757-12618G>A | XP_024309683.1:n.757-12618G>A | |
| XR_244621.3:n.980-12618G>A | ||
| NM_001040260.4:c.757-12618G>A MANE Select | NP_001035350.2:n.757-12618G>A | |
| NM_001040261.5:c.757-12618G>A | NP_001035351.4:n.757-12618G>A | |
| NR_036614.2:n.1340-12618G>A |