Linked Data
dbSNP Id:
rs1436567806
gnomAD v2:
4-74270106-T-G
gnomAD v3:
4-73404389-T-G
gnomAD v4:
4-73404389-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404389T>G , CM000666.2:g.73404389T>G | GRCh38 |
| NC_000004.11:g.74270106T>G , CM000666.1:g.74270106T>G | GRCh37 |
| NC_000004.10:g.74488970T>G | NCBI36 |
| NG_009291.1:g.5135T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.62T>G MANE Select | ENSP00000295897.4:p.Val21Gly | |
| ENST00000295897.8:c.62T>G | ENSP00000295897.4:p.Val21Gly | |
| ENST00000401494.7:c.62T>G | ENSP00000384695.3:p.Val21Gly | |
| ENST00000415165.6:c.62T>G | ENSP00000401820.2:p.Val21Gly | |
| ENST00000441319.5:c.68T>G | ENSP00000392541.1:p.Val23Gly | |
| ENST00000476441.6:c.62T>G | ENSP00000423727.1:p.Val21Gly | |
| ENST00000503124.5:c.-119T>G | ENSP00000421027.1:n.-119T>G | |
| ENST00000509063.5:c.62T>G | ENSP00000422784.1:p.Val21Gly | |
| ENST00000510166.5:n.103T>G | ||
| ENST00000514786.1:n.48+53T>G | ||
| ENST00000515133.5:n.103T>G | ||
| ENST00000621085.4:c.62T>G | ENSP00000483421.1:p.Val21Gly | |
| ENST00000621628.4:c.62T>G | ENSP00000480485.1:p.Val21Gly | |
| NM_000477.5:c.62T>G | NP_000468.1:p.Val21Gly | |
| NM_000477.6:c.62T>G | NP_000468.1:p.Val21Gly | |
| NM_000477.7:c.62T>G MANE Select | NP_000468.1:p.Val21Gly |