Linked Data
ClinVar Variation Id:
3002943
ClinVar RCV Id:
RCV003860534
dbSNP Id:
rs747069136
ExAC:
9:117166332 C / T
gnomAD v2:
9-117166332-C-T
gnomAD v3:
9-114404052-C-T
gnomAD v4:
9-114404052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114404052C>T , CM000671.2:g.114404052C>T | GRCh38 |
| NC_000009.11:g.117166332C>T , CM000671.1:g.117166332C>T | GRCh37 |
| NC_000009.10:g.116206153C>T | NCBI36 |
| NG_016700.1:g.106405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.606G>A | ENSP00000514396.1:p.Ser202= | |
| ENST00000362057.4:c.2262G>A MANE Select | ENSP00000354623.3:p.Ser754= | |
| ENST00000674036.8:c.1235G>A | ||
| ENST00000674048.1:n.2143G>A | ||
| ENST00000265134.10:c.1113G>A | ENSP00000265134.6:p.Ser371= | |
| ENST00000362057.3:c.2262G>A | ENSP00000354623.3:p.Ser754= | |
| ENST00000374059.7:c.1209G>A | ENSP00000363172.3:p.Ser403= | |
| NM_001083885.2:c.1113G>A | NP_001077354.2:p.Ser371= | |
| NM_001173425.1:c.2259G>A | NP_001166896.1:p.Ser753= | |
| NM_015404.3:c.2262G>A | NP_056219.3:p.Ser754= | |
| XM_005251897.3:c.1599G>A | XP_005251954.2:p.Ser533= | |
| XM_011518484.1:c.2295G>A | XP_011516786.1:p.Ser765= | |
| XM_011518485.1:c.2295G>A | XP_011516787.1:p.Ser765= | |
| XM_011518486.1:c.2292G>A | XP_011516788.1:p.Ser764= | |
| XM_011518487.1:c.2169G>A | XP_011516789.1:p.Ser723= | |
| XM_011518488.1:c.2052G>A | XP_011516790.1:p.Ser684= | |
| XM_011518495.1:c.972G>A | XP_011516797.1:p.Ser324= | |
| XR_929747.1:n.3199G>A | ||
| XR_929748.1:n.3097G>A | ||
| NM_001346890.1:c.1209G>A | NP_001333819.1:p.Ser403= | |
| XM_011518486.2:c.2292G>A | XP_011516788.1:p.Ser764= | |
| XM_011518487.2:c.2169G>A | XP_011516789.1:p.Ser723= | |
| XM_011518488.2:c.2052G>A | XP_011516790.1:p.Ser684= | |
| XR_929747.2:n.2510G>A | ||
| XR_929748.2:n.2408G>A | ||
| NM_015404.4:c.2262G>A MANE Select | NP_056219.3:p.Ser754= | |
| NM_001173425.2:c.2259G>A | NP_001166896.1:p.Ser753= | |
| NM_001083885.3:c.1113G>A | NP_001077354.2:p.Ser371= |