Linked Data
ClinVar Variation Id:
2041245
ClinVar RCV Id:
RCV002912943
dbSNP Id:
rs760919218
ExAC:
1:197390538 G / A
gnomAD v2:
1-197390538-G-A
gnomAD v3:
1-197421408-G-A
gnomAD v4:
1-197421408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421408G>A , CM000663.2:g.197421408G>A | GRCh38 |
| NC_000001.10:g.197390538G>A , CM000663.1:g.197390538G>A | GRCh37 |
| NC_000001.9:g.195657161G>A | NCBI36 |
| NG_008483.1:g.158131G>A | |
| NG_008483.2:g.224947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1580G>A MANE Select | ENSP00000356370.3:p.Ser527Asn | |
| ENST00000638467.1:c.1580G>A | ENSP00000491102.1:p.Ser527Asn | |
| ENST00000681519.1:c.461G>A | ENSP00000505267.1:p.Ser154Asn | |
| ENST00000367397.1:c.-278G>A | ENSP00000356367.1:n.-278G>A | |
| ENST00000367399.6:c.1244G>A | ENSP00000356369.2:p.Ser415Asn | |
| ENST00000367400.7:c.1580G>A | ENSP00000356370.3:p.Ser527Asn | |
| ENST00000476483.1:n.540G>A | ||
| ENST00000484075.5:c.1580G>A | ENSP00000433932.1:p.Ser527Asn | |
| ENST00000535699.5:c.1373G>A | ENSP00000438786.1:p.Ser458Asn | |
| ENST00000538660.5:c.1580G>A | ENSP00000438091.1:p.Ser527Asn | |
| NM_001193640.1:c.1244G>A | NP_001180569.1:p.Ser415Asn | |
| NM_001257965.1:c.1373G>A | NP_001244894.1:p.Ser458Asn | |
| NM_001257966.1:c.1580G>A | NP_001244895.1:p.Ser527Asn | |
| NM_201253.2:c.1580G>A | NP_957705.1:p.Ser527Asn | |
| NR_047563.1:n.1789G>A | ||
| NR_047564.1:n.1789G>A | ||
| XM_011509365.1:c.1580G>A | XP_011507667.1:p.Ser527Asn | |
| XM_011509366.1:c.1580G>A | XP_011507668.1:p.Ser527Asn | |
| XM_011509367.1:c.1580G>A | XP_011507669.1:p.Ser527Asn | |
| XM_011509368.1:c.998G>A | XP_011507670.1:p.Ser333Asn | |
| XM_011509369.1:c.23G>A | XP_011507671.1:p.Ser8Asn | |
| XM_011509365.2:c.1580G>A | XP_011507667.1:p.Ser527Asn | |
| XM_011509369.2:c.23G>A | XP_011507671.1:p.Ser8Asn | |
| XM_017000851.1:c.737G>A | XP_016856340.1:p.Ser246Asn | |
| XM_017000852.1:c.1580G>A | XP_016856341.1:p.Ser527Asn | |
| NM_201253.3:c.1580G>A MANE Select | NP_957705.1:p.Ser527Asn | |
| NM_001193640.2:c.1244G>A | NP_001180569.1:p.Ser415Asn | |
| NM_001257965.2:c.1373G>A | NP_001244894.1:p.Ser458Asn | |
| NR_047563.2:n.1741G>A | ||
| NR_047564.2:n.1741G>A | ||
| NM_001257966.2:c.1580G>A | NP_001244895.1:p.Ser527Asn |