Linked Data
ClinVar Variation Id:
42054
dbSNP Id:
rs139633388
ExAC:
3:148896396 C / G
gnomAD v2:
3-148896396-C-G
gnomAD v3:
3-149178609-C-G
gnomAD v4:
3-149178609-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178609C>G , CM000665.2:g.149178609C>G | GRCh38 |
| NC_000003.11:g.148896396C>G , CM000665.1:g.148896396C>G | GRCh37 |
| NC_000003.10:g.150379086C>G | NCBI36 |
| NG_011800.1:g.48437G>C | |
| NG_011800.2:g.48437G>C | |
| NG_011800.3:g.48437G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2684G>C MANE Select | ENSP00000264613.6:p.Gly895Ala | |
| ENST00000264613.10:c.2684G>C | ENSP00000264613.6:p.Gly895Ala | |
| ENST00000460674.5:n.601G>C | ||
| ENST00000463556.5:n.206G>C | ||
| ENST00000479771.5:c.89G>C | ENSP00000420367.1:p.Gly30Ala | |
| ENST00000481169.5:c.2471G>C | ENSP00000418773.1:p.Gly824Ala | |
| ENST00000490639.5:n.2716G>C | ||
| ENST00000494544.1:c.2033G>C | ENSP00000420545.1:p.Gly678Ala | |
| NM_000096.3:c.2684G>C | NP_000087.1:p.Gly895Ala | |
| NR_046371.1:n.2724G>C | ||
| XM_006713499.2:c.2684G>C | XP_006713562.1:p.Gly895Ala | |
| XM_006713500.2:c.2684G>C | XP_006713563.1:p.Gly895Ala | |
| XM_006713501.2:c.2684G>C | XP_006713564.1:p.Gly895Ala | |
| XM_011512435.1:c.2684G>C | XP_011510737.1:p.Gly895Ala | |
| XR_427361.2:n.2942G>C | ||
| XM_006713499.3:c.2684G>C | XP_006713562.1:p.Gly895Ala | |
| XM_006713500.4:c.2684G>C | XP_006713563.1:p.Gly895Ala | |
| XM_006713501.3:c.2684G>C | XP_006713564.1:p.Gly895Ala | |
| XM_011512435.2:c.2684G>C | XP_011510737.1:p.Gly895Ala | |
| XM_017005734.2:c.2684G>C | XP_016861223.1:p.Gly895Ala | |
| XM_017005735.2:c.2684G>C | XP_016861224.1:p.Gly895Ala | |
| XR_427361.3:n.2900G>C | ||
| NM_000096.4:c.2684G>C MANE Select | NP_000087.2:p.Gly895Ala | |
| NR_046371.2:n.2508G>C |