Linked Data
ClinVar Variation Id:
499275
ClinVar RCV Id:
RCV000595431
dbSNP Id:
rs1287506606
gnomAD v2:
10-76602980-A-G
gnomAD v4:
10-74843222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74843222A>G , CM000672.2:g.74843222A>G | GRCh38 |
| NC_000010.10:g.76602980A>G , CM000672.1:g.76602980A>G | GRCh37 |
| NC_000010.9:g.76272986A>G | NCBI36 |
| NG_032048.1:g.21810A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287239.10:c.365A>G MANE Select | ENSP00000287239.4:p.Asn122Ser | |
| ENST00000372711.2:c.365A>G | ENSP00000361796.1:p.Asn122Ser | |
| ENST00000372714.6:c.365A>G | ENSP00000361799.1:p.Asn122Ser | |
| ENST00000372724.6:c.365A>G | ENSP00000361809.2:p.Asn122Ser | |
| ENST00000372725.6:c.365A>G | ENSP00000361810.1:p.Asn122Ser | |
| ENST00000647554.1:c.365A>G | ENSP00000497300.1:p.Asn122Ser | |
| ENST00000647637.1:c.365A>G | ENSP00000497620.1:p.Asn122Ser | |
| ENST00000647642.1:c.365A>G | ENSP00000497723.1:p.Asn122Ser | |
| ENST00000647666.1:c.365A>G | ENSP00000497307.1:p.Asn122Ser | |
| ENST00000648048.1:c.365A>G | ENSP00000497325.1:p.Asn122Ser | |
| ENST00000648159.1:c.365A>G | ENSP00000497197.1:p.Asn122Ser | |
| ENST00000648302.1:n.359A>G | ||
| ENST00000648369.1:c.365A>G | ENSP00000496795.1:p.Asn122Ser | |
| ENST00000648370.1:c.365A>G | ENSP00000497804.1:p.Asn122Ser | |
| ENST00000648483.1:c.365A>G | ENSP00000498153.1:p.Asn122Ser | |
| ENST00000648539.1:c.365A>G | ENSP00000497859.1:p.Asn122Ser | |
| ENST00000648725.1:c.365A>G | ENSP00000497841.1:p.Asn122Ser | |
| ENST00000648892.1:c.365A>G | ENSP00000497048.1:p.Asn122Ser | |
| ENST00000648899.1:c.365A>G | ENSP00000497198.1:p.Asn122Ser | |
| ENST00000649006.1:c.365A>G | ENSP00000498139.1:p.Asn122Ser | |
| ENST00000649375.1:c.365A>G | ENSP00000498141.1:p.Asn122Ser | |
| ENST00000649442.1:c.365A>G | ENSP00000498102.1:p.Asn122Ser | |
| ENST00000649463.1:c.365A>G | ENSP00000497166.1:p.Asn122Ser | |
| ENST00000649645.1:n.340A>G | ||
| ENST00000649657.1:c.365A>G | ENSP00000497491.1:p.Asn122Ser | |
| ENST00000650048.1:c.365A>G | ENSP00000497813.1:p.Asn122Ser | |
| ENST00000650232.1:c.365A>G | ENSP00000497570.1:p.Asn122Ser | |
| ENST00000650330.1:n.851A>G | ||
| ENST00000650380.1:n.844A>G | ||
| ENST00000650434.1:c.365A>G | ENSP00000496881.1:p.Asn122Ser | |
| ENST00000650517.1:n.603A>G | ||
| ENST00000287239.8:c.365A>G | ENSP00000287239.4:p.Asn122Ser | |
| ENST00000372711.1:c.365A>G | ENSP00000361796.1:p.Asn122Ser | |
| ENST00000372714.5:c.365A>G | ENSP00000361799.1:p.Asn122Ser | |
| ENST00000372724.5:c.365A>G | ENSP00000361809.1:p.Asn122Ser | |
| ENST00000372725.5:c.365A>G | ENSP00000361810.1:p.Asn122Ser | |
| NM_001256468.1:c.365A>G | NP_001243397.1:p.Asn122Ser | |
| NM_001256469.1:c.365A>G | NP_001243398.1:p.Asn122Ser | |
| NM_012330.3:c.365A>G | NP_036462.2:p.Asn122Ser | |
| XM_005269664.2:c.365A>G | XP_005269721.1:p.Asn122Ser | |
| XM_017016000.2:c.365A>G | XP_016871489.1:p.Asn122Ser | |
| XM_017016002.1:c.365A>G | XP_016871491.1:p.Asn122Ser | |
| XM_017016003.1:c.365A>G | XP_016871492.1:p.Asn122Ser | |
| XM_017016004.2:c.365A>G | XP_016871493.1:p.Asn122Ser | |
| XM_017016005.2:c.365A>G | XP_016871494.1:p.Asn122Ser | |
| XM_017016006.2:c.365A>G | XP_016871495.1:p.Asn122Ser | |
| XM_017016008.2:c.365A>G | XP_016871497.1:p.Asn122Ser | |
| XM_017016009.1:c.365A>G | XP_016871498.1:p.Asn122Ser | |
| NM_012330.4:c.365A>G MANE Select | NP_036462.2:p.Asn122Ser | |
| NM_001370132.1:c.365A>G | NP_001357061.1:p.Asn122Ser | |
| NM_001370133.1:c.365A>G | NP_001357062.1:p.Asn122Ser | |
| NM_001370134.1:c.-174A>G | NP_001357063.1:n.-174A>G | |
| NM_001370135.1:c.-174A>G | NP_001357064.1:n.-174A>G | |
| NM_001370136.1:c.365A>G | NP_001357065.1:p.Asn122Ser | |
| NM_001370137.1:c.365A>G | NP_001357066.1:p.Asn122Ser | |
| NM_001370138.1:c.365A>G | NP_001357067.1:p.Asn122Ser | |
| NM_001370139.1:c.365A>G | NP_001357068.1:p.Asn122Ser | |
| NM_001370140.1:c.365A>G | NP_001357069.1:p.Asn122Ser | |
| NM_001370141.1:c.365A>G | NP_001357070.1:p.Asn122Ser | |
| NM_001370142.1:c.365A>G | NP_001357071.1:p.Asn122Ser | |
| NM_001370143.1:c.365A>G | NP_001357072.1:p.Asn122Ser | |
| NM_001370144.1:c.365A>G | NP_001357073.1:p.Asn122Ser | |
| NM_001256468.2:c.365A>G | NP_001243397.1:p.Asn122Ser | |
| NM_001256469.2:c.365A>G | NP_001243398.1:p.Asn122Ser |