Linked Data
dbSNP Id:
rs230528
gnomAD v2:
4-103457585-G-T
gnomAD v3:
4-102536428-G-T
gnomAD v4:
4-102536428-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102536428G>T , CM000666.2:g.102536428G>T | GRCh38 |
| NC_000004.11:g.103457585G>T , CM000666.1:g.103457585G>T | GRCh37 |
| NG_050628.1:g.40100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.184-1430G>T | ENSP00000426147.2:n.184-1430G>T | |
| ENST00000509165.2:c.160-1430G>T | ENSP00000423877.2:n.160-1430G>T | |
| ENST00000697793.1:n.258-1430G>T | ||
| ENST00000697794.1:c.118+6514G>T | ENSP00000513443.1:n.118+6514G>T | |
| ENST00000697796.1:n.436-1430G>T | ||
| ENST00000697797.1:n.354-1430G>T | ||
| ENST00000697798.1:n.4372G>T | ||
| ENST00000226574.9:c.160-1430G>T MANE Select | ENSP00000226574.4:n.160-1430G>T | |
| ENST00000652569.1:c.74-1430G>T | ||
| ENST00000652619.1:c.181-1430G>T | ENSP00000499031.1:n.181-1430G>T | |
| ENST00000226574.8:c.160-1430G>T | ENSP00000226574.4:n.160-1430G>T | |
| ENST00000394820.8:c.157-1430G>T | ENSP00000378297.4:n.157-1430G>T | |
| ENST00000505458.5:c.157-1430G>T | ENSP00000424790.1:n.157-1430G>T | |
| ENST00000507079.5:c.184-1430G>T | ENSP00000426147.1:n.184-1430G>T | |
| ENST00000509165.1:c.160-1430G>T | ENSP00000423877.1:n.160-1430G>T | |
| ENST00000511926.5:c.181-1430G>T | ENSP00000420904.1:n.181-1430G>T | |
| NM_001165412.1:c.157-1430G>T | NP_001158884.1:n.157-1430G>T | |
| NM_003998.3:c.160-1430G>T | NP_003989.2:n.160-1430G>T | |
| XM_011532006.1:c.181-1430G>T | XP_011530308.1:n.181-1430G>T | |
| XM_011532007.1:c.157-1430G>T | XP_011530309.1:n.157-1430G>T | |
| XM_011532008.1:c.160-1430G>T | XP_011530310.1:n.160-1430G>T | |
| XM_011532009.1:c.-237-1430G>T | XP_011530311.1:n.-237-1430G>T | |
| NM_001319226.1:c.157-1430G>T | NP_001306155.1:n.157-1430G>T | |
| XM_011532006.2:c.181-1430G>T | XP_011530308.1:n.181-1430G>T | |
| XM_024454067.1:c.184-1430G>T | XP_024309835.1:n.184-1430G>T | |
| XM_024454068.1:c.160-1430G>T | XP_024309836.1:n.160-1430G>T | |
| XM_024454069.1:c.184-1430G>T | XP_024309837.1:n.184-1430G>T | |
| NM_003998.4:c.160-1430G>T MANE Select | NP_003989.2:n.160-1430G>T | |
| NM_001165412.2:c.157-1430G>T | NP_001158884.1:n.157-1430G>T | |
| NM_001319226.2:c.157-1430G>T | NP_001306155.1:n.157-1430G>T | |
| NM_001382625.1:c.160-1430G>T | NP_001369554.1:n.160-1430G>T | |
| NM_001382626.1:c.160-1430G>T | NP_001369555.1:n.160-1430G>T | |
| NM_001382627.1:c.157-1430G>T | NP_001369556.1:n.157-1430G>T | |
| NM_001382628.1:c.118-1430G>T | NP_001369557.1:n.118-1430G>T |