Linked Data
dbSNP Id:
rs1360822286
gnomAD v2:
19-12769282-C-A
gnomAD v3:
19-12658468-C-A
gnomAD v4:
19-12658468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658468C>A , CM000681.2:g.12658468C>A | GRCh38 |
| NC_000019.9:g.12769282C>A , CM000681.1:g.12769282C>A | GRCh37 |
| NC_000019.8:g.12630282C>A | NCBI36 |
| NG_008318.1:g.13310G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1069G>T MANE Select | ENSP00000395473.2:p.Ala357Ser | |
| ENST00000221363.8:c.1066G>T | ENSP00000221363.4:p.Ala356Ser | |
| ENST00000456935.6:c.1069G>T | ENSP00000395473.2:p.Ala357Ser | |
| ENST00000465830.1:n.150G>T | ||
| ENST00000466794.5:n.1009-124G>T | ||
| ENST00000495617.1:n.280+263G>T | ||
| NM_000528.3:c.1069G>T | NP_000519.2:p.Ala357Ser | |
| NM_001173498.1:c.1066G>T | NP_001166969.1:p.Ala356Ser | |
| XM_005259913.1:c.1072G>T | XP_005259970.1:p.Ala358Ser | |
| XM_011528017.1:c.9-124G>T | XP_011526319.1:n.9-124G>T | |
| XM_005259913.2:c.1072G>T | XP_005259970.1:p.Ala358Ser | |
| XM_024451518.1:c.9-124G>T | XP_024307286.1:n.9-124G>T | |
| NM_000528.4:c.1069G>T MANE Select | NP_000519.2:p.Ala357Ser | |
| NM_001173498.2:c.1066G>T | NP_001166969.1:p.Ala356Ser |