Linked Data
ClinVar Variation Id:
99887
ClinVar RCV Id:
RCV000086327
RCV000763788
RCV001239396
RCV001826778
RCV001526761
RCV001563888
RCV004529904
dbSNP Id:
rs62636290
ExAC:
1:197398583 A / G
gnomAD v2:
1-197398583-A-G
gnomAD v3:
1-197429453-A-G
gnomAD v4:
1-197429453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429453A>G , CM000663.2:g.197429453A>G | GRCh38 |
| NC_000001.10:g.197398583A>G , CM000663.1:g.197398583A>G | GRCh37 |
| NC_000001.9:g.195665206A>G | NCBI36 |
| NG_008483.1:g.166176A>G | |
| NG_008483.2:g.232992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2681A>G MANE Select | ENSP00000356370.3:p.Asn894Ser | |
| ENST00000638467.1:c.2681A>G | ENSP00000491102.1:p.Asn894Ser | |
| ENST00000681519.1:c.1562A>G | ENSP00000505267.1:p.Asn521Ser | |
| ENST00000367397.1:c.824A>G | ENSP00000356367.1:p.Asn275Ser | |
| ENST00000367399.6:c.2345A>G | ENSP00000356369.2:p.Asn782Ser | |
| ENST00000367400.7:c.2681A>G | ENSP00000356370.3:p.Asn894Ser | |
| ENST00000484075.5:c.2681A>G | ENSP00000433932.1:p.Asn894Ser | |
| ENST00000535699.5:c.2609A>G | ENSP00000438786.1:p.Asn870Ser | |
| ENST00000538660.5:c.2129-6147A>G | ENSP00000438091.1:n.2129-6147A>G | |
| NM_001193640.1:c.2345A>G | NP_001180569.1:p.Asn782Ser | |
| NM_001257965.1:c.2609A>G | NP_001244894.1:p.Asn870Ser | |
| NM_001257966.1:c.2129-6147A>G | NP_001244895.1:n.2129-6147A>G | |
| NM_201253.2:c.2681A>G | NP_957705.1:p.Asn894Ser | |
| NR_047563.1:n.2682A>G | ||
| NR_047564.1:n.2890A>G | ||
| XM_011509365.1:c.2681A>G | XP_011507667.1:p.Asn894Ser | |
| XM_011509366.1:c.2681A>G | XP_011507668.1:p.Asn894Ser | |
| XM_011509367.1:c.2681A>G | XP_011507669.1:p.Asn894Ser | |
| XM_011509368.1:c.2099A>G | XP_011507670.1:p.Asn700Ser | |
| XM_011509369.1:c.1124A>G | XP_011507671.1:p.Asn375Ser | |
| XM_011509365.2:c.2681A>G | XP_011507667.1:p.Asn894Ser | |
| XM_011509369.2:c.1124A>G | XP_011507671.1:p.Asn375Ser | |
| XM_017000851.1:c.1838A>G | XP_016856340.1:p.Asn613Ser | |
| XM_017000852.1:c.2816A>G | XP_016856341.1:p.Asn939Ser | |
| NM_201253.3:c.2681A>G MANE Select | NP_957705.1:p.Asn894Ser | |
| NM_001193640.2:c.2345A>G | NP_001180569.1:p.Asn782Ser | |
| NM_001257965.2:c.2609A>G | NP_001244894.1:p.Asn870Ser | |
| NR_047563.2:n.2634A>G | ||
| NR_047564.2:n.2842A>G | ||
| NM_001257966.2:c.2129-6147A>G | NP_001244895.1:n.2129-6147A>G |