Linked Data
ClinVar Variation Id:
38728
ClinVar RCV Id:
RCV000056379
RCV000522700
RCV000763157
RCV000781257
RCV001004305
RCV001831621
RCV003473243
dbSNP Id:
rs121908761
ExAC:
7:117251771 C / A
gnomAD v2:
7-117251771-C-A
gnomAD v3:
7-117611717-C-A
gnomAD v4:
7-117611717-C-A
COSMIC:
COSM4153785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611717C>A , CM000669.2:g.117611717C>A | GRCh38 |
| NC_000007.13:g.117251771C>A , CM000669.1:g.117251771C>A | GRCh37 |
| NC_000007.12:g.117039007C>A | NCBI36 |
| NG_016465.4:g.150934C>A , LRG_663:g.150934C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3276C>A | ENSP00000497673.2:p.Tyr1092Ter | |
| ENST00000647978.2:c.*2990C>A | ENSP00000497658.1:n.*2990C>A | |
| ENST00000649781.2:c.3093C>A | ENSP00000497203.1:p.Tyr1031Ter | |
| ENST00000685018.2:c.3276C>A | ENSP00000510194.2:p.Tyr1092Ter | |
| ENST00000687278.2:c.3276C>A | ENSP00000509593.2:p.Tyr1092Ter | |
| ENST00000699585.1:c.3276C>A | ENSP00000514456.1:p.Tyr1092Ter | |
| ENST00000699598.1:c.3276C>A | ENSP00000514467.1:p.Tyr1092Ter | |
| ENST00000699599.1:c.3276C>A | ENSP00000514468.1:p.Tyr1092Ter | |
| ENST00000699600.1:c.3276C>A | ENSP00000514469.1:p.Tyr1092Ter | |
| ENST00000699601.1:c.*1576C>A | ENSP00000514470.1:n.*1576C>A | |
| ENST00000699602.1:c.3276C>A | ENSP00000514471.1:p.Tyr1092Ter | |
| ENST00000699604.1:c.*3100C>A | ENSP00000514472.1:n.*3100C>A | |
| ENST00000699605.1:c.2850C>A | ENSP00000514473.1:p.Tyr950Ter | |
| ENST00000685018.1:c.24C>A | ENSP00000510194.1:p.Tyr8Ter | |
| ENST00000687278.1:c.867C>A | ENSP00000509593.1:p.Tyr289Ter | |
| ENST00000003084.11:c.3276C>A MANE Select | ENSP00000003084.6:p.Tyr1092Ter | |
| ENST00000647720.1:c.926C>A | ||
| ENST00000648260.1:c.2058C>A | ENSP00000497957.1:p.Tyr686Ter | |
| ENST00000649406.1:c.3093C>A | ENSP00000497965.1:p.Tyr1031Ter | |
| ENST00000649781.1:c.3093C>A | ENSP00000497203.1:p.Tyr1031Ter | |
| ENST00000003084.10:c.3276C>A | ENSP00000003084.6:p.Tyr1092Ter | |
| ENST00000426809.5:c.3186C>A | ENSP00000389119.1:p.Tyr1062Ter | |
| ENST00000468795.1:c.101C>A | ||
| NM_000492.3:c.3276C>A , LRG_663t1:c.3276C>A | NP_000483.3:p.Tyr1092Ter | |
| XM_011515751.1:c.3366C>A | XP_011514053.1:p.Tyr1122Ter | |
| XM_011515752.1:c.3366C>A | XP_011514054.1:p.Tyr1122Ter | |
| XM_011515753.1:c.3033C>A | XP_011514055.1:p.Tyr1011Ter | |
| XM_011515754.1:c.3033C>A | XP_011514056.1:p.Tyr1011Ter | |
| NM_000492.4:c.3276C>A MANE Select | NP_000483.3:p.Tyr1092Ter |