Linked Data
dbSNP Id:
rs4648033
gnomAD v2:
4-103503889-G-A
gnomAD v3:
4-102582732-G-A
gnomAD v4:
4-102582732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102582732G>A , CM000666.2:g.102582732G>A | GRCh38 |
| NC_000004.11:g.103503889G>A , CM000666.1:g.103503889G>A | GRCh37 |
| NC_000004.10:g.103722927G>A | NCBI36 |
| NG_050628.1:g.86404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.860-134G>A | ENSP00000426147.2:n.860-134G>A | |
| ENST00000509165.2:c.836-134G>A | ENSP00000423877.2:n.836-134G>A | |
| ENST00000697794.1:c.*477-134G>A | ENSP00000513443.1:n.*477-134G>A | |
| ENST00000697799.1:n.333-134G>A | ||
| ENST00000697800.1:n.47-134G>A | ||
| ENST00000226574.9:c.836-134G>A MANE Select | ENSP00000226574.4:n.836-134G>A | |
| ENST00000652569.1:c.811+98G>A | ||
| ENST00000652619.1:c.857-134G>A | ENSP00000499031.1:n.857-134G>A | |
| ENST00000226574.8:c.836-134G>A | ENSP00000226574.4:n.836-134G>A | |
| ENST00000394820.8:c.833-134G>A | ENSP00000378297.4:n.833-134G>A | |
| ENST00000505458.5:c.833-134G>A | ENSP00000424790.1:n.833-134G>A | |
| ENST00000508584.1:c.215-134G>A | ENSP00000424815.1:n.215-134G>A | |
| ENST00000600343.5:c.293-134G>A | ENSP00000469340.1:n.293-134G>A | |
| NM_001165412.1:c.833-134G>A | NP_001158884.1:n.833-134G>A | |
| NM_003998.3:c.836-134G>A | NP_003989.2:n.836-134G>A | |
| XM_011532006.1:c.857-134G>A | XP_011530308.1:n.857-134G>A | |
| XM_011532007.1:c.833-134G>A | XP_011530309.1:n.833-134G>A | |
| XM_011532008.1:c.677-134G>A | XP_011530310.1:n.677-134G>A | |
| XM_011532009.1:c.440-134G>A | XP_011530311.1:n.440-134G>A | |
| NM_001319226.1:c.833-134G>A | NP_001306155.1:n.833-134G>A | |
| XM_011532006.2:c.857-134G>A | XP_011530308.1:n.857-134G>A | |
| XM_024454067.1:c.860-134G>A | XP_024309835.1:n.860-134G>A | |
| XM_024454068.1:c.836-134G>A | XP_024309836.1:n.836-134G>A | |
| XM_024454069.1:c.701-134G>A | XP_024309837.1:n.701-134G>A | |
| NM_003998.4:c.836-134G>A MANE Select | NP_003989.2:n.836-134G>A | |
| NM_001165412.2:c.833-134G>A | NP_001158884.1:n.833-134G>A | |
| NM_001319226.2:c.833-134G>A | NP_001306155.1:n.833-134G>A | |
| NM_001382625.1:c.836-134G>A | NP_001369554.1:n.836-134G>A | |
| NM_001382626.1:c.836-134G>A | NP_001369555.1:n.836-134G>A | |
| NM_001382627.1:c.833-134G>A | NP_001369556.1:n.833-134G>A | |
| NM_001382628.1:c.794-134G>A | NP_001369557.1:n.794-134G>A |