Linked Data
ClinVar Variation Id:
259598
dbSNP Id:
rs1052352
ExAC:
16:31195279 C / T
gnomAD v2:
16-31195279-C-T
gnomAD v3:
16-31183958-C-T
gnomAD v4:
16-31183958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31183958C>T , CM000678.2:g.31183958C>T | GRCh38 |
| NC_000016.9:g.31195279C>T , CM000678.1:g.31195279C>T | GRCh37 |
| NC_000016.8:g.31102780C>T | NCBI36 |
| NG_012889.2:g.8827C>T , LRG_655:g.8827C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254108.12:c.291C>T MANE Select | ENSP00000254108.8:p.Tyr97= | |
| ENST00000254108.11:c.291C>T | ENSP00000254108.7:p.Tyr97= | |
| ENST00000380244.7:c.288C>T | ENSP00000369594.3:p.Tyr96= | |
| ENST00000487509.6:n.356C>T | ||
| ENST00000487974.1:n.409C>T | ||
| ENST00000566605.5:c.291C>T | ENSP00000455073.1:p.Tyr97= | |
| ENST00000568685.1:c.291C>T | ENSP00000455282.1:p.Tyr97= | |
| NM_001170634.1:c.288C>T | NP_001164105.1:p.Tyr96= | |
| NM_001170937.1:c.291C>T | NP_001164408.1:p.Tyr97= | |
| NM_004960.3:c.291C>T , LRG_655t1:c.291C>T | NP_004951.1:p.Tyr97= | |
| NR_028388.2:n.396C>T | ||
| XM_005255233.3:c.-290C>T | XP_005255290.1:n.-290C>T | |
| XM_011545781.1:c.291C>T | XP_011544083.1:p.Tyr97= | |
| XM_005255233.5:c.-290C>T | XP_005255290.1:n.-290C>T | |
| XM_024450221.1:c.288C>T | XP_024305989.1:p.Tyr96= | |
| NM_004960.4:c.291C>T MANE Select | NP_004951.1:p.Tyr97= |