Linked Data
dbSNP Id:
rs1390982969
gnomAD v2:
17-73518259-T-G
gnomAD v3:
17-75522178-T-G
gnomAD v4:
17-75522178-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522178T>G , CM000679.2:g.75522178T>G | GRCh38 |
| NC_000017.10:g.73518259T>G , CM000679.1:g.73518259T>G | GRCh37 |
| NC_000017.9:g.71029854T>G | NCBI36 |
| NG_013041.1:g.10651T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1097T>G MANE Select | ENSP00000327487.6:p.Val366Gly | |
| ENST00000434205.8:c.794T>G | ENSP00000406559.4:p.Val265Gly | |
| ENST00000545228.3:c.1097T>G | ENSP00000438169.3:p.Val366Gly | |
| ENST00000579449.2:n.896T>G | ||
| ENST00000580013.6:n.1300T>G | ||
| ENST00000679370.1:n.1678T>G | ||
| ENST00000679429.1:c.*555T>G | ENSP00000505403.1:n.*555T>G | |
| ENST00000679443.1:n.1166T>G | ||
| ENST00000679782.1:c.1097T>G | ENSP00000505995.1:p.Val366Gly | |
| ENST00000679919.1:n.1166T>G | ||
| ENST00000679928.1:c.*708T>G | ENSP00000506071.1:n.*708T>G | |
| ENST00000680528.1:n.1122T>G | ||
| ENST00000680999.1:c.1097T>G | ENSP00000504984.1:p.Val366Gly | |
| ENST00000681282.1:c.*343T>G | ENSP00000506339.1:n.*343T>G | |
| ENST00000333213.10:c.1097T>G | ENSP00000327487.6:p.Val366Gly | |
| ENST00000545228.2:c.186T>G | ||
| ENST00000583173.5:c.630T>G | ENSP00000463619.1:n.630T>G | |
| NM_207346.2:c.1097T>G | NP_997229.2:p.Val366Gly | |
| XM_005257229.2:c.1097T>G | XP_005257286.1:p.Val366Gly | |
| XM_006721821.2:c.794T>G | XP_006721884.1:p.Val265Gly | |
| XM_011524616.1:c.1097T>G | XP_011522918.1:p.Val366Gly | |
| XM_011524617.1:c.1097T>G | XP_011522919.1:p.Val366Gly | |
| XM_011524618.1:c.1097T>G | XP_011522920.1:p.Val366Gly | |
| XR_243646.2:n.1127T>G | ||
| XM_005257229.4:c.1097T>G | XP_005257286.1:p.Val366Gly | |
| XR_243646.4:n.1133T>G | ||
| NM_207346.3:c.1097T>G MANE Select | NP_997229.2:p.Val366Gly |