Linked Data
ClinVar Variation Id:
16342
ClinVar RCV Id:
RCV000017751
RCV000255235
RCV000419796
RCV000421104
RCV000442248
RCV000434824
RCV000427428
RCV003155034
dbSNP Id:
rs121913485
PubMed:
PMID:8845844
PMID:9438390
PMID:9843049
PMID:11429702
PMID:19331127
PMID:19381019
PMID:20301540
PMID:20542753
PMID:23200862
PMID:24476948
PMID:25157968
PMID:26619011
CIViC:
CA341413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1804372A>G , CM000666.2:g.1804372A>G | GRCh38 |
| NC_000004.11:g.1806099A>G , CM000666.1:g.1806099A>G | GRCh37 |
| NC_000004.10:g.1775897A>G | NCBI36 |
| NG_012632.1:g.16061A>G , LRG_1021:g.16061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1124A>G | ENSP00000339824.4:p.Tyr375Cys | |
| ENST00000260795.8:c.*174A>G | ENSP00000260795.3:n.*174A>G | |
| ENST00000352904.6:c.931-452A>G | ENSP00000231803.1:n.931-452A>G | |
| ENST00000412135.7:c.1106A>G | ENSP00000412903.3:p.Tyr369Cys | |
| ENST00000440486.8:c.1118A>G MANE Select | ENSP00000414914.2:p.Tyr373Cys | |
| ENST00000481110.7:c.1118A>G | ENSP00000420533.2:p.Tyr373Cys | |
| ENST00000643463.1:n.269A>G | ||
| ENST00000260795.6:c.1118A>G | ENSP00000260795.2:p.Tyr373Cys | |
| ENST00000340107.8:c.1124A>G | ENSP00000339824.4:p.Tyr375Cys | |
| ENST00000352904.5:c.931-452A>G | ENSP00000231803.1:n.931-452A>G | |
| ENST00000412135.6:c.931-452A>G | ENSP00000412903.2:n.931-452A>G | |
| ENST00000440486.6:c.1118A>G | ENSP00000414914.2:p.Tyr373Cys | |
| ENST00000481110.6:c.1118A>G | ENSP00000420533.2:p.Tyr373Cys | |
| ENST00000613647.4:c.*174A>G | ENSP00000479472.1:n.*174A>G | |
| NM_000142.4:c.1118A>G , LRG_1021t1:c.1118A>G | NP_000133.1:p.Tyr373Cys | |
| NM_001163213.1:c.1124A>G , LRG_1021t2:c.1124A>G | NP_001156685.1:p.Tyr375Cys | |
| NM_022965.3:c.931-452A>G | NP_075254.1:n.931-452A>G | |
| XM_006713868.1:c.1124A>G | XP_006713931.1:p.Tyr375Cys | |
| XM_006713869.1:c.1124A>G | XP_006713932.1:p.Tyr375Cys | |
| XM_006713870.1:c.1124A>G | XP_006713933.1:p.Tyr375Cys | |
| XM_006713871.1:c.1124A>G | XP_006713934.1:p.Tyr375Cys | |
| XM_006713872.1:c.1118A>G | XP_006713935.1:p.Tyr373Cys | |
| XM_006713873.1:c.1118A>G | XP_006713936.1:p.Tyr373Cys | |
| XM_011513420.1:c.1118A>G | XP_011511722.1:p.Tyr373Cys | |
| XM_011513422.1:c.1118A>G | XP_011511724.1:p.Tyr373Cys | |
| NM_001354809.1:c.1118A>G | NP_001341738.1:p.Tyr373Cys | |
| NM_001354810.1:c.1118A>G | NP_001341739.1:p.Tyr373Cys | |
| NR_148971.1:n.1525A>G | ||
| NM_001354809.2:c.1118A>G | NP_001341738.1:p.Tyr373Cys | |
| NM_001354810.2:c.1118A>G | NP_001341739.1:p.Tyr373Cys | |
| NR_148971.2:n.1544A>G | ||
| NM_000142.5:c.1118A>G MANE Select | NP_000133.1:p.Tyr373Cys | |
| NM_001163213.2:c.1124A>G | NP_001156685.1:p.Tyr375Cys | |
| NM_022965.4:c.931-452A>G | NP_075254.1:n.931-452A>G |