Linked Data
dbSNP Id:
rs9657904
gnomAD v2:
3-105586714-T-C
gnomAD v3:
3-105867870-T-C
gnomAD v4:
3-105867870-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.105867870T>C , CM000665.2:g.105867870T>C | GRCh38 |
| NC_000003.11:g.105586714T>C , CM000665.1:g.105586714T>C | GRCh37 |
| NC_000003.10:g.107069404T>C | NCBI36 |
| NG_055547.1:g.6683A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394030.8:c.-14-279A>G MANE Select | ENSP00000377598.4:n.-14-279A>G | |
| ENST00000438603.6:c.53-279A>G | ENSP00000409750.2:n.53-279A>G | |
| ENST00000443752.2:c.-14-279A>G | ENSP00000393906.2:n.-14-279A>G | |
| ENST00000447441.6:c.-14-279A>G | ENSP00000400949.2:n.-14-279A>G | |
| ENST00000642907.1:n.62-279A>G | ||
| ENST00000643192.1:c.-14-279A>G | ENSP00000495754.1:n.-14-279A>G | |
| ENST00000643322.1:c.53-279A>G | ENSP00000496352.1:n.53-279A>G | |
| ENST00000645425.1:c.-14-279A>G | ENSP00000494383.1:n.-14-279A>G | |
| ENST00000645759.1:c.-14-279A>G | ENSP00000496297.1:n.-14-279A>G | |
| ENST00000646499.1:c.-14-279A>G | ENSP00000496708.1:n.-14-279A>G | |
| ENST00000646825.1:c.-14-279A>G | ENSP00000496761.1:n.-14-279A>G | |
| ENST00000264122.8:c.-14-279A>G | ENSP00000264122.4:n.-14-279A>G | |
| ENST00000403724.5:c.-14-279A>G | ENSP00000384816.1:n.-14-279A>G | |
| ENST00000405772.5:c.-14-279A>G | ENSP00000384938.1:n.-14-279A>G | |
| ENST00000438603.5:c.53-279A>G | ENSP00000409750.1:n.53-279A>G | |
| ENST00000443752.1:c.-14-279A>G | ENSP00000393906.1:n.-14-279A>G | |
| ENST00000447441.5:c.-14-279A>G | ENSP00000400949.1:n.-14-279A>G | |
| NM_170662.3:c.-14-279A>G | NP_733762.2:n.-14-279A>G | |
| XM_005247853.2:c.-14-279A>G | XP_005247910.1:n.-14-279A>G | |
| XM_011513257.1:c.-14-279A>G | XP_011511559.1:n.-14-279A>G | |
| NM_001321786.1:c.71-279A>G | NP_001308715.1:n.71-279A>G | |
| NM_001321788.1:c.-14-279A>G | NP_001308717.1:n.-14-279A>G | |
| NM_001321789.1:c.71-279A>G | NP_001308718.1:n.71-279A>G | |
| NM_001321790.1:c.53-279A>G | NP_001308719.1:n.53-279A>G | |
| NM_001321791.1:c.-14-279A>G | NP_001308720.1:n.-14-279A>G | |
| NM_001321793.1:c.-14-279A>G | NP_001308722.1:n.-14-279A>G | |
| NM_001321794.1:c.-14-279A>G | NP_001308723.1:n.-14-279A>G | |
| NM_001321795.1:c.-14-279A>G | NP_001308724.1:n.-14-279A>G | |
| NM_001321796.1:c.-14-279A>G | NP_001308725.1:n.-14-279A>G | |
| NM_001321797.1:c.-14-279A>G | NP_001308726.1:n.-14-279A>G | |
| NM_001321798.1:c.-14-279A>G | NP_001308727.1:n.-14-279A>G | |
| NM_001321799.1:c.-14-279A>G | NP_001308728.1:n.-14-279A>G | |
| NM_001321806.1:c.-637-279A>G | NP_001308735.1:n.-637-279A>G | |
| NM_001321807.1:c.-938-279A>G | NP_001308736.1:n.-938-279A>G | |
| NM_001321808.1:c.-938-279A>G | NP_001308737.1:n.-938-279A>G | |
| NM_001321811.1:c.-637-279A>G | NP_001308740.1:n.-637-279A>G | |
| NM_001321816.1:c.-637-279A>G | NP_001308745.1:n.-637-279A>G | |
| NM_001321820.1:c.-1510-279A>G | NP_001308749.1:n.-1510-279A>G | |
| NM_001321822.1:c.-1393-279A>G | NP_001308751.1:n.-1393-279A>G | |
| NM_170662.5:c.-14-279A>G MANE Select | NP_733762.2:n.-14-279A>G | |
| NR_135806.1:n.309-279A>G | ||
| NR_135807.1:n.309-279A>G | ||
| NR_135808.1:n.309-279A>G | ||
| NR_135809.1:n.309-279A>G | ||
| NR_135810.1:n.87-279A>G | ||
| NR_135811.1:n.133-279A>G | ||
| NR_135812.1:n.29-279A>G | ||
| XM_011513259.3:c.71-279A>G | XP_011511561.2:n.71-279A>G | |
| XM_017007395.1:c.53-279A>G | XP_016862884.1:n.53-279A>G | |
| XM_017007396.1:c.71-279A>G | XP_016862885.1:n.71-279A>G | |
| XM_017007397.1:c.71-279A>G | XP_016862886.1:n.71-279A>G | |
| XM_017007398.1:c.53-279A>G | XP_016862887.1:n.53-279A>G | |
| XM_017007399.1:c.-14-279A>G | XP_016862888.1:n.-14-279A>G | |
| XM_017007400.1:c.71-279A>G | XP_016862889.1:n.71-279A>G | |
| XR_001740338.1:n.254-279A>G | ||
| XR_001740339.1:n.254-279A>G | ||
| NM_001321788.2:c.-14-279A>G | NP_001308717.1:n.-14-279A>G | |
| NM_001321790.2:c.53-279A>G | NP_001308719.1:n.53-279A>G | |
| NM_001321791.2:c.-14-279A>G | NP_001308720.1:n.-14-279A>G | |
| NM_001321793.2:c.-14-279A>G | NP_001308722.1:n.-14-279A>G | |
| NM_001321794.2:c.-14-279A>G | NP_001308723.1:n.-14-279A>G | |
| NM_001321795.2:c.-14-279A>G | NP_001308724.1:n.-14-279A>G | |
| NM_001321796.2:c.-14-279A>G | NP_001308725.1:n.-14-279A>G | |
| NM_001321797.2:c.-14-279A>G | NP_001308726.1:n.-14-279A>G | |
| NM_001321798.2:c.-14-279A>G | NP_001308727.1:n.-14-279A>G | |
| NM_001321799.2:c.-14-279A>G | NP_001308728.1:n.-14-279A>G | |
| NM_001321806.2:c.-637-279A>G | NP_001308735.1:n.-637-279A>G | |
| NM_001321807.2:c.-938-279A>G | NP_001308736.1:n.-938-279A>G | |
| NM_001321808.2:c.-938-279A>G | NP_001308737.1:n.-938-279A>G | |
| NM_001321811.2:c.-637-279A>G | NP_001308740.1:n.-637-279A>G | |
| NM_001321816.2:c.-637-279A>G | NP_001308745.1:n.-637-279A>G | |
| NM_001321820.2:c.-1510-279A>G | NP_001308749.1:n.-1510-279A>G | |
| NM_001321822.2:c.-1393-279A>G | NP_001308751.1:n.-1393-279A>G | |
| NR_135806.2:n.278-279A>G | ||
| NR_135807.2:n.278-279A>G | ||
| NR_135808.2:n.278-279A>G | ||
| NR_135809.2:n.278-279A>G | ||
| NR_135810.2:n.66-279A>G | ||
| NR_135811.2:n.102-279A>G |