Linked Data
ClinVar Variation Id:
7190
ClinVar RCV Id:
RCV000007611
RCV000079011
RCV000660772
RCV000763156
RCV001009388
RCV001004443
RCV001831547
RCV003473037
dbSNP Id:
rs121908752
ExAC:
7:117175339 T / G
gnomAD v2:
7-117175339-T-G
gnomAD v3:
7-117535285-T-G
gnomAD v4:
7-117535285-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117535285T>G , CM000669.2:g.117535285T>G | GRCh38 |
| NC_000007.13:g.117175339T>G , CM000669.1:g.117175339T>G | GRCh37 |
| NC_000007.12:g.116962575T>G | NCBI36 |
| NG_016465.4:g.74502T>G , LRG_663:g.74502T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.617T>G | ENSP00000497673.2:p.Leu206Trp | |
| ENST00000647978.2:c.*514T>G | ENSP00000497658.1:n.*514T>G | |
| ENST00000649781.2:c.617T>G | ENSP00000497203.1:p.Leu206Trp | |
| ENST00000685018.2:c.617T>G | ENSP00000510194.2:p.Leu206Trp | |
| ENST00000687278.2:c.617T>G | ENSP00000509593.2:p.Leu206Trp | |
| ENST00000699585.1:c.617T>G | ENSP00000514456.1:p.Leu206Trp | |
| ENST00000699596.1:c.617T>G | ENSP00000514465.1:p.Leu206Trp | |
| ENST00000699597.1:c.617T>G | ENSP00000514466.1:p.Leu206Trp | |
| ENST00000699598.1:c.617T>G | ENSP00000514467.1:p.Leu206Trp | |
| ENST00000699599.1:c.617T>G | ENSP00000514468.1:p.Leu206Trp | |
| ENST00000699600.1:c.617T>G | ENSP00000514469.1:p.Leu206Trp | |
| ENST00000699601.1:c.617T>G | ENSP00000514470.1:p.Leu206Trp | |
| ENST00000699602.1:c.617T>G | ENSP00000514471.1:p.Leu206Trp | |
| ENST00000699604.1:c.*441T>G | ENSP00000514472.1:n.*441T>G | |
| ENST00000699605.1:c.374T>G | ENSP00000514473.1:p.Leu125Trp | |
| ENST00000003084.11:c.617T>G MANE Select | ENSP00000003084.6:p.Leu206Trp | |
| ENST00000647978.1:c.*514T>G | ENSP00000497658.1:n.*514T>G | |
| ENST00000648260.1:c.617T>G | ENSP00000497957.1:p.Leu206Trp | |
| ENST00000649406.1:c.617T>G | ENSP00000497965.1:p.Leu206Trp | |
| ENST00000649781.1:c.617T>G | ENSP00000497203.1:p.Leu206Trp | |
| ENST00000673785.1:c.374T>G | ENSP00000501235.1:p.Leu125Trp | |
| ENST00000003084.10:c.617T>G | ENSP00000003084.6:p.Leu206Trp | |
| ENST00000426809.5:c.527T>G | ENSP00000389119.1:p.Leu176Trp | |
| NM_000492.3:c.617T>G , LRG_663t1:c.617T>G | NP_000483.3:p.Leu206Trp | |
| XM_011515751.1:c.707T>G | XP_011514053.1:p.Leu236Trp | |
| XM_011515752.1:c.707T>G | XP_011514054.1:p.Leu236Trp | |
| XM_011515753.1:c.374T>G | XP_011514055.1:p.Leu125Trp | |
| XM_011515754.1:c.374T>G | XP_011514056.1:p.Leu125Trp | |
| NM_000492.4:c.617T>G MANE Select | NP_000483.3:p.Leu206Trp |