Linked Data
ClinVar Variation Id:
1698443
ClinVar RCV Id:
RCV002271356
dbSNP Id:
rs1686915043
gnomAD v4:
2-165931757-C-T
MutSpliceDB:
CA349048604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165931757C>T , CM000664.2:g.165931757C>T | GRCh38 |
| NC_000002.11:g.166788267C>T , CM000664.1:g.166788267C>T | GRCh37 |
| NC_000002.10:g.166496513C>T | NCBI36 |
| NG_030345.1:g.27082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.894+1G>A MANE Select | ENSP00000243344.7:n.894+1G>A | |
| ENST00000652557.1:c.894+1G>A | ENSP00000498617.1:n.894+1G>A | |
| ENST00000679356.1:c.894+1G>A | ENSP00000506245.1:n.894+1G>A | |
| ENST00000679671.1:n.1007+1G>A | ||
| ENST00000679676.1:c.783+1G>A | ENSP00000505492.1:n.783+1G>A | |
| ENST00000679799.1:c.894+1G>A | ENSP00000505208.1:n.894+1G>A | |
| ENST00000679840.1:c.894+1G>A | ENSP00000505248.1:n.894+1G>A | |
| ENST00000679931.1:c.895G>A | ENSP00000505632.1:p.Val299Met | |
| ENST00000679967.1:c.894+1G>A | ENSP00000506607.1:n.894+1G>A | |
| ENST00000680327.1:c.895G>A | ENSP00000506639.1:p.Val299Met | |
| ENST00000680448.1:c.894+1G>A | ENSP00000505921.1:n.894+1G>A | |
| ENST00000680657.1:n.1005+1G>A | ||
| ENST00000680690.1:c.*146+1G>A | ENSP00000506121.1:n.*146+1G>A | |
| ENST00000680698.1:n.4799G>A | ||
| ENST00000680888.1:c.894+1G>A | ENSP00000506276.1:n.894+1G>A | |
| ENST00000680947.1:c.*166+1G>A | ENSP00000506496.1:n.*166+1G>A | |
| ENST00000681024.1:c.894+1G>A | ENSP00000506449.1:n.894+1G>A | |
| ENST00000681083.1:c.*628+1G>A | ENSP00000506095.1:n.*628+1G>A | |
| ENST00000681167.1:n.768+1G>A | ||
| ENST00000681483.1:c.894+1G>A | ENSP00000505499.1:n.894+1G>A | |
| ENST00000681502.1:c.*318+1G>A | ENSP00000505644.1:n.*318+1G>A | |
| ENST00000681606.1:c.894+1G>A | ENSP00000505354.1:n.894+1G>A | |
| ENST00000681819.1:c.894+1G>A | ENSP00000505673.1:n.894+1G>A | |
| ENST00000681952.1:c.894+1G>A | ENSP00000506400.1:n.894+1G>A | |
| ENST00000243344.7:c.894+1G>A | ENSP00000243344.7:n.894+1G>A | |
| ENST00000464374.5:n.934+1G>A | ||
| NM_024753.4:c.894+1G>A | NP_079029.3:n.894+1G>A | |
| XM_006712761.1:c.894+1G>A | XP_006712824.1:n.894+1G>A | |
| XM_011511870.1:c.327+1G>A | XP_011510172.1:n.327+1G>A | |
| XM_011511871.1:c.144+1G>A | XP_011510173.1:n.144+1G>A | |
| XM_011511872.1:c.894+1G>A | XP_011510174.1:n.894+1G>A | |
| XM_011511871.3:c.144+1G>A | XP_011510173.1:n.144+1G>A | |
| XM_011511872.2:c.894+1G>A | XP_011510174.1:n.894+1G>A | |
| XM_017004967.1:c.894+1G>A | XP_016860456.1:n.894+1G>A | |
| XM_017004968.2:c.240+1G>A | XP_016860457.1:n.240+1G>A | |
| XM_017004969.1:c.-122G>A | XP_016860458.1:n.-122G>A | |
| NM_024753.5:c.894+1G>A MANE Select | NP_079029.3:n.894+1G>A |