Linked Data
ClinVar Variation Id:
1242261
ClinVar RCV Id:
RCV001648111
dbSNP Id:
rs230525
gnomAD v2:
4-103458877-G-A
gnomAD v3:
4-102537720-G-A
gnomAD v4:
4-102537720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102537720G>A , CM000666.2:g.102537720G>A | GRCh38 |
| NC_000004.11:g.103458877G>A , CM000666.1:g.103458877G>A | GRCh37 |
| NG_050628.1:g.41392G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.184-138G>A | ENSP00000426147.2:n.184-138G>A | |
| ENST00000509165.2:c.160-138G>A | ENSP00000423877.2:n.160-138G>A | |
| ENST00000697793.1:n.258-138G>A | ||
| ENST00000697794.1:c.118+7806G>A | ENSP00000513443.1:n.118+7806G>A | |
| ENST00000697796.1:n.436-138G>A | ||
| ENST00000697797.1:n.354-138G>A | ||
| ENST00000697798.1:n.5664G>A | ||
| ENST00000226574.9:c.160-138G>A MANE Select | ENSP00000226574.4:n.160-138G>A | |
| ENST00000652569.1:c.74-138G>A | ||
| ENST00000652619.1:c.181-138G>A | ENSP00000499031.1:n.181-138G>A | |
| ENST00000226574.8:c.160-138G>A | ENSP00000226574.4:n.160-138G>A | |
| ENST00000394820.8:c.157-138G>A | ENSP00000378297.4:n.157-138G>A | |
| ENST00000502367.1:n.122G>A | ||
| ENST00000505458.5:c.157-138G>A | ENSP00000424790.1:n.157-138G>A | |
| ENST00000507079.5:c.184-138G>A | ENSP00000426147.1:n.184-138G>A | |
| ENST00000509165.1:c.160-138G>A | ENSP00000423877.1:n.160-138G>A | |
| ENST00000511926.5:c.181-138G>A | ENSP00000420904.1:n.181-138G>A | |
| ENST00000513803.5:n.42+92G>A | ||
| NM_001165412.1:c.157-138G>A | NP_001158884.1:n.157-138G>A | |
| NM_003998.3:c.160-138G>A | NP_003989.2:n.160-138G>A | |
| XM_011532006.1:c.181-138G>A | XP_011530308.1:n.181-138G>A | |
| XM_011532007.1:c.157-138G>A | XP_011530309.1:n.157-138G>A | |
| XM_011532008.1:c.160-138G>A | XP_011530310.1:n.160-138G>A | |
| XM_011532009.1:c.-237-138G>A | XP_011530311.1:n.-237-138G>A | |
| NM_001319226.1:c.157-138G>A | NP_001306155.1:n.157-138G>A | |
| XM_011532006.2:c.181-138G>A | XP_011530308.1:n.181-138G>A | |
| XM_024454067.1:c.184-138G>A | XP_024309835.1:n.184-138G>A | |
| XM_024454068.1:c.160-138G>A | XP_024309836.1:n.160-138G>A | |
| XM_024454069.1:c.184-138G>A | XP_024309837.1:n.184-138G>A | |
| NM_003998.4:c.160-138G>A MANE Select | NP_003989.2:n.160-138G>A | |
| NM_001165412.2:c.157-138G>A | NP_001158884.1:n.157-138G>A | |
| NM_001319226.2:c.157-138G>A | NP_001306155.1:n.157-138G>A | |
| NM_001382625.1:c.160-138G>A | NP_001369554.1:n.160-138G>A | |
| NM_001382626.1:c.160-138G>A | NP_001369555.1:n.160-138G>A | |
| NM_001382627.1:c.157-138G>A | NP_001369556.1:n.157-138G>A | |
| NM_001382628.1:c.118-138G>A | NP_001369557.1:n.118-138G>A |