Linked Data
ClinVar Variation Id:
14247
dbSNP Id:
rs63750424
ExAC:
17:44101427 C / T
gnomAD v2:
17-44101427-C-T
gnomAD v4:
17-46024061-C-T
COSMIC:
COSM980228
PubMed:
PMID:9382467
PMID:9641683
PMID:9824291
PMID:9973279
PMID:10514099
PMID:10820221
PMID:11102510
PMID:11159174
PMID:11278002
PMID:11402146
PMID:11756436
PMID:11889249
PMID:12368474
PMID:12876142
PMID:14517953
PMID:15178938
PMID:15178940
PMID:16495230
PMID:18587238
PMID:18803694
PMID:18992292
PMID:19304664
PMID:19659892
PMID:20377816
PMID:20634584
PMID:21849646
PMID:22787795
PMID:23105105
PMID:23338682
PMID:23383383
PMID:23727082
PMID:24150109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46024061C>T , CM000679.2:g.46024061C>T | GRCh38 |
| NC_000017.10:g.44101427C>T , CM000679.1:g.44101427C>T | GRCh37 |
| NC_000017.9:g.41457272C>T | NCBI36 |
| NG_007398.1:g.134649C>T | |
| NG_007398.2:g.134599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.1129C>T | ENSP00000413056.2:p.Arg377Trp | |
| ENST00000703922.1:c.1129C>T | ENSP00000515557.1:p.Arg377Trp | |
| ENST00000703923.1:c.1042C>T | ENSP00000515558.1:p.Arg348Trp | |
| ENST00000703924.1:c.1129C>T | ENSP00000515559.1:p.Arg377Trp | |
| ENST00000703978.1:c.1216C>T | ENSP00000515600.1:p.Arg406Trp | |
| ENST00000703980.1:n.442C>T | ||
| ENST00000703981.1:n.400C>T | ||
| ENST00000703982.1:n.634C>T | ||
| ENST00000262410.10:c.2392C>T MANE Select | ENSP00000262410.6:p.Arg798Trp | |
| ENST00000344290.10:c.2101C>T | ENSP00000340820.6:p.Arg701Trp | |
| ENST00000351559.10:c.1216C>T | ENSP00000303214.7:p.Arg406Trp | |
| ENST00000535772.6:c.1036C>T | ENSP00000443028.2:p.Arg346Trp | |
| ENST00000680542.1:c.1129C>T | ENSP00000505258.1:p.Arg377Trp | |
| ENST00000680674.1:c.1165C>T | ENSP00000505478.1:p.Arg389Trp | |
| ENST00000262410.9:c.2167C>T | ENSP00000262410.5:p.Arg723Trp | |
| ENST00000334239.12:c.949C>T | ENSP00000334886.8:p.Arg317Trp | |
| ENST00000340799.9:c.1129C>T | ENSP00000340438.5:p.Arg377Trp | |
| ENST00000344290.9:c.2221C>T | ENSP00000340820.5:p.Arg741Trp | |
| ENST00000351559.9:c.1216C>T | ENSP00000303214.7:p.Arg406Trp | |
| ENST00000415613.6:c.2221C>T | ENSP00000410838.2:p.Arg741Trp | |
| ENST00000420682.6:c.1129C>T | ENSP00000413056.2:p.Arg377Trp | |
| ENST00000431008.7:c.1123C>T | ENSP00000389250.3:p.Arg375Trp | |
| ENST00000446361.7:c.1042C>T | ENSP00000408975.3:p.Arg348Trp | |
| ENST00000535772.5:c.1123C>T | ENSP00000443028.1:p.Arg375Trp | |
| ENST00000571987.5:c.2167C>T | ENSP00000458742.1:p.Arg723Trp | |
| ENST00000574436.5:c.1216C>T | ENSP00000460965.1:p.Arg406Trp | |
| ENST00000576518.1:n.6408C>T | ||
| NM_001123066.3:c.2221C>T | NP_001116538.2:p.Arg741Trp | |
| NM_001123067.3:c.1129C>T | NP_001116539.1:p.Arg377Trp | |
| NM_001203251.1:c.1036C>T | NP_001190180.1:p.Arg346Trp | |
| NM_001203252.1:c.1123C>T | NP_001190181.1:p.Arg375Trp | |
| NM_005910.5:c.1216C>T | NP_005901.2:p.Arg406Trp | |
| NM_016834.4:c.1042C>T | NP_058518.1:p.Arg348Trp | |
| NM_016835.4:c.2167C>T | NP_058519.3:p.Arg723Trp | |
| NM_016841.4:c.949C>T | NP_058525.1:p.Arg317Trp | |
| XM_005257362.3:c.2479C>T | XP_005257419.1:p.Arg827Trp | |
| XM_005257364.3:c.2392C>T | XP_005257421.1:p.Arg798Trp | |
| XM_005257365.3:c.2386C>T | XP_005257422.1:p.Arg796Trp | |
| XM_005257366.2:c.2305C>T | XP_005257423.1:p.Arg769Trp | |
| XM_005257367.3:c.2281C>T | XP_005257424.1:p.Arg761Trp | |
| XM_005257368.3:c.2188C>T | XP_005257425.1:p.Arg730Trp | |
| XM_005257369.3:c.1414C>T | XP_005257426.1:p.Arg472Trp | |
| XM_005257370.3:c.1327C>T | XP_005257427.1:p.Arg443Trp | |
| XM_005257371.3:c.1240C>T | XP_005257428.1:p.Arg414Trp | |
| XM_005257362.4:c.2479C>T | XP_005257419.1:p.Arg827Trp | |
| XM_005257364.4:c.2392C>T | XP_005257421.1:p.Arg798Trp | |
| XM_005257365.4:c.2386C>T | XP_005257422.1:p.Arg796Trp | |
| XM_005257366.3:c.2305C>T | XP_005257423.1:p.Arg769Trp | |
| XM_005257367.4:c.2281C>T | XP_005257424.1:p.Arg761Trp | |
| XM_005257368.4:c.2188C>T | XP_005257425.1:p.Arg730Trp | |
| XM_005257369.4:c.1414C>T | XP_005257426.1:p.Arg472Trp | |
| XM_005257370.4:c.1327C>T | XP_005257427.1:p.Arg443Trp | |
| XM_005257371.4:c.1240C>T | XP_005257428.1:p.Arg414Trp | |
| NM_001203251.2:c.1036C>T | NP_001190180.1:p.Arg346Trp | |
| NM_001377265.1:c.2392C>T MANE Select | NP_001364194.1:p.Arg798Trp | |
| NM_001377266.1:c.2101C>T | NP_001364195.1:p.Arg701Trp | |
| NM_001377267.1:c.772-1056C>T | NP_001364196.1:n.772-1056C>T | |
| NM_001377268.1:c.949C>T | NP_001364197.1:p.Arg317Trp | |
| NM_016834.5:c.1042C>T | NP_058518.1:p.Arg348Trp | |
| NM_016841.5:c.949C>T | NP_058525.1:p.Arg317Trp | |
| NR_165166.1:n.1047C>T | ||
| NM_001123066.4:c.2221C>T | NP_001116538.2:p.Arg741Trp | |
| NM_001123067.4:c.1129C>T | NP_001116539.1:p.Arg377Trp | |
| NM_001203252.2:c.1123C>T | NP_001190181.1:p.Arg375Trp | |
| NM_005910.6:c.1216C>T | NP_005901.2:p.Arg406Trp | |
| NM_016835.5:c.2167C>T | NP_058519.3:p.Arg723Trp |