Linked Data
ClinVar Variation Id:
331819
dbSNP Id:
rs147540469
ExAC:
2:166731302 T / C
gnomAD v2:
2-166731302-T-C
gnomAD v3:
2-165874792-T-C
gnomAD v4:
2-165874792-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165874792T>C , CM000664.2:g.165874792T>C | GRCh38 |
| NC_000002.11:g.166731302T>C , CM000664.1:g.166731302T>C | GRCh37 |
| NC_000002.10:g.166439548T>C | NCBI36 |
| NG_030345.1:g.84047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3914A>G MANE Select | ENSP00000243344.7:p.Asp1305Gly | |
| ENST00000652557.1:c.3806-3772A>G | ENSP00000498617.1:n.3806-3772A>G | |
| ENST00000679356.1:c.3911A>G | ENSP00000506245.1:p.Asp1304Gly | |
| ENST00000679676.1:c.3803A>G | ENSP00000505492.1:p.Asp1268Gly | |
| ENST00000679799.1:c.3806-3772A>G | ENSP00000505208.1:n.3806-3772A>G | |
| ENST00000679931.1:c.*2956A>G | ENSP00000505632.1:n.*2956A>G | |
| ENST00000679967.1:c.3905A>G | ENSP00000506607.1:p.Asp1302Gly | |
| ENST00000680327.1:c.*2956A>G | ENSP00000506639.1:n.*2956A>G | |
| ENST00000680657.1:n.5357A>G | ||
| ENST00000680690.1:c.*3166A>G | ENSP00000506121.1:n.*3166A>G | |
| ENST00000680888.1:c.3914A>G | ENSP00000506276.1:p.Asp1305Gly | |
| ENST00000680904.1:n.418A>G | ||
| ENST00000680947.1:c.*3186A>G | ENSP00000506496.1:n.*3186A>G | |
| ENST00000681024.1:c.*3704A>G | ENSP00000506449.1:n.*3704A>G | |
| ENST00000681083.1:c.*3645A>G | ENSP00000506095.1:n.*3645A>G | |
| ENST00000681167.1:n.3792A>G | ||
| ENST00000681483.1:c.*724A>G | ENSP00000505499.1:n.*724A>G | |
| ENST00000681502.1:c.*7174A>G | ENSP00000505644.1:n.*7174A>G | |
| ENST00000681819.1:c.*724A>G | ENSP00000505673.1:n.*724A>G | |
| ENST00000681952.1:c.3914A>G | ENSP00000506400.1:p.Asp1305Gly | |
| ENST00000243344.7:c.3914A>G | ENSP00000243344.7:p.Asp1305Gly | |
| ENST00000392695.6:c.814A>G | ||
| NM_024753.4:c.3914A>G | NP_079029.3:p.Asp1305Gly | |
| XM_011511870.1:c.3347A>G | XP_011510172.1:p.Asp1116Gly | |
| XM_011511871.1:c.3164A>G | XP_011510173.1:p.Asp1055Gly | |
| XM_011511871.3:c.3164A>G | XP_011510173.1:p.Asp1055Gly | |
| XM_011511872.2:c.*1116A>G | XP_011510174.1:n.*1116A>G | |
| XM_017004968.2:c.3260A>G | XP_016860457.1:p.Asp1087Gly | |
| XM_017004969.1:c.2915A>G | XP_016860458.1:p.Asp972Gly | |
| NM_024753.5:c.3914A>G MANE Select | NP_079029.3:p.Asp1305Gly |