Linked Data
dbSNP Id:
rs746689926
ExAC:
6:43487890 T / C
gnomAD v2:
6-43487890-T-C
gnomAD v3:
6-43520152-T-C
gnomAD v4:
6-43520152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520152T>C , CM000668.2:g.43520152T>C | GRCh38 |
| NC_000006.11:g.43487890T>C , CM000668.1:g.43487890T>C | GRCh37 |
| NC_000006.10:g.43595868T>C | NCBI36 |
| NG_028283.1:g.8114T>C | |
| NG_028283.3:g.15451T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.469T>C | ENSP00000496683.1:p.Ser157Pro | |
| ENST00000642195.1:c.469T>C MANE Select | ENSP00000496044.1:p.Ser157Pro | |
| ENST00000643341.1:c.469T>C | ENSP00000496018.1:p.Ser157Pro | |
| ENST00000643799.1:c.469T>C | ENSP00000494529.1:p.Ser157Pro | |
| ENST00000645141.1:c.*80T>C | ENSP00000496755.1:n.*80T>C | |
| ENST00000646188.1:c.304T>C | ENSP00000496001.1:p.Ser102Pro | |
| ENST00000646433.1:c.469T>C | ENSP00000494368.1:p.Ser157Pro | |
| ENST00000646700.1:c.469T>C | ENSP00000495521.1:p.Ser157Pro | |
| ENST00000304004.7:c.469T>C | ENSP00000307212.3:p.Ser157Pro | |
| ENST00000372344.6:c.469T>C | ENSP00000361419.2:p.Ser157Pro | |
| ENST00000372389.7:c.469T>C | ENSP00000361465.3:p.Ser157Pro | |
| ENST00000423780.1:c.381-123T>C | ||
| ENST00000428025.6:c.304T>C | ENSP00000395401.2:p.Ser102Pro | |
| ENST00000455605.2:n.673T>C | ||
| ENST00000481352.6:n.752T>C | ||
| ENST00000488601.6:n.708T>C | ||
| NM_203290.2:c.469T>C | NP_976035.1:p.Ser157Pro | |
| XM_005249491.1:c.469T>C | XP_005249548.1:p.Ser157Pro | |
| XM_011515000.1:c.469T>C | XP_011513302.1:p.Ser157Pro | |
| NM_001318876.1:c.469T>C | NP_001305805.1:p.Ser157Pro | |
| NM_001363658.1:c.469T>C | NP_001350587.1:p.Ser157Pro | |
| NM_203290.3:c.469T>C | NP_976035.1:p.Ser157Pro | |
| NM_203290.4:c.469T>C MANE Select | NP_976035.1:p.Ser157Pro | |
| NM_001363658.2:c.469T>C | NP_001350587.1:p.Ser157Pro | |
| NM_001318876.2:c.469T>C | NP_001305805.1:p.Ser157Pro |