Linked Data
dbSNP Id:
rs1196250104
gnomAD v2:
16-27454325-G-C
gnomAD v3:
16-27443004-G-C
gnomAD v4:
16-27443004-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27443004G>C , CM000678.2:g.27443004G>C | GRCh38 |
| NC_000016.9:g.27454325G>C , CM000678.1:g.27454325G>C | GRCh37 |
| NC_000016.8:g.27361826G>C | NCBI36 |
| NG_012222.1:g.45603G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697146.1:c.390G>C | ENSP00000513135.1:p.Arg130Ser | |
| ENST00000337929.8:c.395G>C MANE Select | ENSP00000338010.3:p.Gly132Ala | |
| ENST00000337929.7:c.395G>C | ENSP00000338010.3:p.Gly132Ala | |
| ENST00000395754.4:c.395G>C | ENSP00000379103.4:p.Gly132Ala | |
| ENST00000561953.1:n.335G>C | ||
| ENST00000564089.5:c.395G>C | ENSP00000456707.1:p.Gly132Ala | |
| NM_021798.3:c.395G>C | NP_068570.1:p.Gly132Ala | |
| NM_181078.2:c.395G>C | NP_851564.1:p.Gly132Ala | |
| NM_181079.4:c.461G>C | NP_851565.4:p.Gly154Ala | |
| XM_011545857.1:c.461G>C | XP_011544159.1:p.Gly154Ala | |
| XM_011545858.1:c.136-1538G>C | XP_011544160.1:n.136-1538G>C | |
| XM_011545857.3:c.461G>C | XP_011544159.1:p.Gly154Ala | |
| XM_011545858.3:c.136-1538G>C | XP_011544160.1:n.136-1538G>C | |
| XM_017023257.2:c.395G>C | XP_016878746.1:p.Gly132Ala | |
| NM_181078.3:c.395G>C MANE Select | NP_851564.1:p.Gly132Ala | |
| NM_021798.4:c.395G>C | NP_068570.1:p.Gly132Ala | |
| NM_181079.5:c.461G>C | NP_851565.4:p.Gly154Ala |