Linked Data
ClinVar Variation Id:
195777
ClinVar RCV Id:
RCV000176426
RCV000415806
RCV001135582
RCV000986865
RCV001135581
RCV001085304
RCV001171333
RCV002277374
dbSNP Id:
rs146496725
ExAC:
2:166747445 G / C
gnomAD v2:
2-166747445-G-C
gnomAD v3:
2-165890935-G-C
gnomAD v4:
2-165890935-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165890935G>C , CM000664.2:g.165890935G>C | GRCh38 |
| NC_000002.11:g.166747445G>C , CM000664.1:g.166747445G>C | GRCh37 |
| NC_000002.10:g.166455691G>C | NCBI36 |
| NG_030345.1:g.67904C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3004C>G MANE Select | ENSP00000243344.7:p.Leu1002Val | |
| ENST00000652557.1:c.3004C>G | ENSP00000498617.1:p.Leu1002Val | |
| ENST00000679356.1:c.3004C>G | ENSP00000506245.1:p.Leu1002Val | |
| ENST00000679676.1:c.2893C>G | ENSP00000505492.1:p.Leu965Val | |
| ENST00000679799.1:c.3004C>G | ENSP00000505208.1:p.Leu1002Val | |
| ENST00000679840.1:c.3004C>G | ENSP00000505248.1:p.Leu1002Val | |
| ENST00000679931.1:c.*2046C>G | ENSP00000505632.1:n.*2046C>G | |
| ENST00000679967.1:c.2995C>G | ENSP00000506607.1:p.Leu999Val | |
| ENST00000680327.1:c.*2046C>G | ENSP00000506639.1:n.*2046C>G | |
| ENST00000680657.1:n.3115C>G | ||
| ENST00000680690.1:c.*2256C>G | ENSP00000506121.1:n.*2256C>G | |
| ENST00000680888.1:c.3004C>G | ENSP00000506276.1:p.Leu1002Val | |
| ENST00000680925.1:n.1034C>G | ||
| ENST00000680947.1:c.*2276C>G | ENSP00000506496.1:n.*2276C>G | |
| ENST00000681024.1:c.3004C>G | ENSP00000506449.1:p.Leu1002Val | |
| ENST00000681083.1:c.*2738C>G | ENSP00000506095.1:n.*2738C>G | |
| ENST00000681167.1:n.2878C>G | ||
| ENST00000681483.1:c.2964C>G | ENSP00000505499.1:p.Asn988Lys | |
| ENST00000681502.1:c.*6264C>G | ENSP00000505644.1:n.*6264C>G | |
| ENST00000681819.1:c.2961C>G | ENSP00000505673.1:p.Asn987Lys | |
| ENST00000681952.1:c.3004C>G | ENSP00000506400.1:p.Leu1002Val | |
| ENST00000243344.7:c.3004C>G | ENSP00000243344.7:p.Leu1002Val | |
| NM_024753.4:c.3004C>G | NP_079029.3:p.Leu1002Val | |
| XM_011511870.1:c.2437C>G | XP_011510172.1:p.Leu813Val | |
| XM_011511871.1:c.2254C>G | XP_011510173.1:p.Leu752Val | |
| XM_011511872.1:c.*206C>G | XP_011510174.1:n.*206C>G | |
| XM_011511871.3:c.2254C>G | XP_011510173.1:p.Leu752Val | |
| XM_011511872.2:c.*206C>G | XP_011510174.1:n.*206C>G | |
| XM_017004967.1:c.3004C>G | XP_016860456.1:p.Leu1002Val | |
| XM_017004968.2:c.2350C>G | XP_016860457.1:p.Leu784Val | |
| XM_017004969.1:c.2005C>G | XP_016860458.1:p.Leu669Val | |
| NM_024753.5:c.3004C>G MANE Select | NP_079029.3:p.Leu1002Val |