Linked Data
ClinVar Variation Id:
474832
dbSNP Id:
rs17158455
ExAC:
11:63398677 T / C
gnomAD v2:
11-63398677-T-C
gnomAD v3:
11-63631205-T-C
gnomAD v4:
11-63631205-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63631205T>C , CM000673.2:g.63631205T>C | GRCh38 |
| NC_000011.9:g.63398677T>C , CM000673.1:g.63398677T>C | GRCh37 |
| NC_000011.8:g.63155253T>C | NCBI36 |
| NG_033985.1:g.45770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398868.8:c.1374A>G MANE Select | ENSP00000381844.3:p.Ser458= | |
| ENST00000398868.7:c.1374A>G | ENSP00000381844.3:p.Ser458= | |
| ENST00000538786.1:c.1320A>G | ENSP00000437593.1:p.Ser440= | |
| NM_001290048.1:c.1320A>G | NP_001276977.1:p.Ser440= | |
| NM_015459.4:c.1374A>G | NP_056274.3:p.Ser458= | |
| XM_006718493.1:c.1317A>G | XP_006718556.1:p.Ser439= | |
| XM_011544902.1:c.786A>G | XP_011543204.1:p.Ser262= | |
| XM_024448428.1:c.786A>G | XP_024304196.1:p.Ser262= | |
| XR_001748255.1:n.325-6286T>C | ||
| NM_001290048.2:c.1320A>G | NP_001276977.1:p.Ser440= | |
| NM_015459.5:c.1374A>G MANE Select | NP_056274.3:p.Ser458= |