Linked Data
ClinVar Variation Id:
737071
ClinVar RCV Id:
RCV000912793
dbSNP Id:
rs753792122
ExAC:
9:139089240 G / A
gnomAD v2:
9-139089240-G-A
gnomAD v3:
9-136197394-G-A
gnomAD v4:
9-136197394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136197394G>A , CM000671.2:g.136197394G>A | GRCh38 |
| NC_000009.11:g.139089240G>A , CM000671.1:g.139089240G>A | GRCh37 |
| NC_000009.10:g.138229061G>A | NCBI36 |
| NG_008097.1:g.12716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.1140C>T | ENSP00000360811.3:p.Ser380= | |
| ENST00000371748.10:c.1125C>T MANE Select | ENSP00000360813.4:p.Ser375= | |
| ENST00000645419.1:n.1950C>T | ||
| ENST00000371746.7:c.1140C>T | ENSP00000360811.3:p.Ser380= | |
| ENST00000371748.9:c.1125C>T | ENSP00000360813.4:p.Ser375= | |
| ENST00000619587.1:c.1092C>T | ENSP00000483080.1:p.Ser364= | |
| NM_014564.3:c.1140C>T | NP_055379.1:p.Ser380= | |
| NM_178138.4:c.1125C>T | NP_835258.1:p.Ser375= | |
| XM_005263410.1:c.1092C>T | XP_005263467.1:p.Ser364= | |
| NM_001363746.1:c.1092C>T | NP_001350675.1:p.Ser364= | |
| NM_014564.4:c.1140C>T | NP_055379.1:p.Ser380= | |
| NM_178138.5:c.1125C>T | NP_835258.1:p.Ser375= | |
| XM_017015168.1:c.1053C>T | XP_016870657.1:p.Ser351= | |
| NM_178138.6:c.1125C>T MANE Select | NP_835258.1:p.Ser375= | |
| NM_014564.5:c.1140C>T | NP_055379.1:p.Ser380= |