Linked Data
dbSNP Id:
rs750128969
ExAC:
2:73799431 T / G
gnomAD v2:
2-73799431-T-G
gnomAD v4:
2-73572304-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572304T>G , CM000664.2:g.73572304T>G | GRCh38 |
| NC_000002.11:g.73799431T>G , CM000664.1:g.73799431T>G | GRCh37 |
| NC_000002.10:g.73652939T>G | NCBI36 |
| NG_011690.1:g.191552T>G , LRG_741:g.191552T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10046T>G | ENSP00000507671.1:p.Val3349Gly | |
| ENST00000682801.1:c.10046T>G | ENSP00000507862.1:p.Val3349Gly | |
| ENST00000682859.1:c.10046T>G | ENSP00000508222.1:p.Val3349Gly | |
| ENST00000683791.1:c.3132T>G | ||
| ENST00000684460.1:c.7327T>G | ||
| ENST00000684548.1:c.10046T>G | ENSP00000507421.1:p.Val3349Gly | |
| ENST00000684590.1:c.4493T>G | ENSP00000507376.1:p.Val1498Gly | |
| ENST00000684656.1:c.7372T>G | ||
| ENST00000613296.6:c.10427T>G MANE Select | ENSP00000482968.1:p.Val3476Gly | |
| ENST00000651057.1:c.581T>G | ENSP00000498504.1:p.Val194Gly | |
| ENST00000651434.1:c.1783T>G | ||
| ENST00000652487.1:c.1524T>G | ||
| ENST00000423048.5:c.3918T>G | ENSP00000399833.1:n.3918T>G | |
| ENST00000484298.5:c.10301T>G | ENSP00000478155.1:p.Val3434Gly | |
| ENST00000613296.4:c.10427T>G | ENSP00000482968.1:p.Val3476Gly | |
| ENST00000614410.4:c.10427T>G | ENSP00000479094.1:p.Val3476Gly | |
| ENST00000620466.4:n.4230T>G | ||
| NM_015120.4:c.10430T>G , LRG_741t1:c.10430T>G | NP_055935.4:p.Val3477Gly | |
| NM_001378454.1:c.10427T>G MANE Select | NP_001365383.1:p.Val3476Gly |