Linked Data
dbSNP Id:
rs753333901
ExAC:
4:103500230 A / G
gnomAD v2:
4-103500230-A-G
gnomAD v4:
4-102579073-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102579073A>G , CM000666.2:g.102579073A>G | GRCh38 |
| NC_000004.11:g.103500230A>G , CM000666.1:g.103500230A>G | GRCh37 |
| NC_000004.10:g.103719268A>G | NCBI36 |
| NG_050628.1:g.82745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.754+34A>G | ENSP00000426147.2:n.754+34A>G | |
| ENST00000509165.2:c.730+34A>G | ENSP00000423877.2:n.730+34A>G | |
| ENST00000697794.1:c.*371+34A>G | ENSP00000513443.1:n.*371+34A>G | |
| ENST00000226574.9:c.730+34A>G MANE Select | ENSP00000226574.4:n.730+34A>G | |
| ENST00000652569.1:c.644+34A>G | ||
| ENST00000652619.1:c.751+34A>G | ENSP00000499031.1:n.751+34A>G | |
| ENST00000226574.8:c.730+34A>G | ENSP00000226574.4:n.730+34A>G | |
| ENST00000394820.8:c.727+34A>G | ENSP00000378297.4:n.727+34A>G | |
| ENST00000505458.5:c.727+34A>G | ENSP00000424790.1:n.727+34A>G | |
| ENST00000508584.1:c.109+34A>G | ENSP00000424815.1:n.109+34A>G | |
| ENST00000510638.1:n.574+34A>G | ||
| ENST00000600343.5:c.187+34A>G | ENSP00000469340.1:n.187+34A>G | |
| NM_001165412.1:c.727+34A>G | NP_001158884.1:n.727+34A>G | |
| NM_003998.3:c.730+34A>G | NP_003989.2:n.730+34A>G | |
| XM_011532006.1:c.751+34A>G | XP_011530308.1:n.751+34A>G | |
| XM_011532007.1:c.727+34A>G | XP_011530309.1:n.727+34A>G | |
| XM_011532008.1:c.572-1462A>G | XP_011530310.1:n.572-1462A>G | |
| XM_011532009.1:c.334+34A>G | XP_011530311.1:n.334+34A>G | |
| NM_001319226.1:c.727+34A>G | NP_001306155.1:n.727+34A>G | |
| XM_011532006.2:c.751+34A>G | XP_011530308.1:n.751+34A>G | |
| XM_024454067.1:c.754+34A>G | XP_024309835.1:n.754+34A>G | |
| XM_024454068.1:c.730+34A>G | XP_024309836.1:n.730+34A>G | |
| XM_024454069.1:c.596-1462A>G | XP_024309837.1:n.596-1462A>G | |
| NM_003998.4:c.730+34A>G MANE Select | NP_003989.2:n.730+34A>G | |
| NM_001165412.2:c.727+34A>G | NP_001158884.1:n.727+34A>G | |
| NM_001319226.2:c.727+34A>G | NP_001306155.1:n.727+34A>G | |
| NM_001382625.1:c.730+34A>G | NP_001369554.1:n.730+34A>G | |
| NM_001382626.1:c.730+34A>G | NP_001369555.1:n.730+34A>G | |
| NM_001382627.1:c.727+34A>G | NP_001369556.1:n.727+34A>G | |
| NM_001382628.1:c.688+34A>G | NP_001369557.1:n.688+34A>G |