Linked Data
ClinVar Variation Id:
447467
ClinVar RCV Id:
RCV000517333
dbSNP Id:
rs1477880063
gnomAD v2:
6-146350703-C-T
gnomAD v3:
6-146029567-C-T
gnomAD v4:
6-146029567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.146029567C>T , CM000668.2:g.146029567C>T | GRCh38 |
| NC_000006.11:g.146350703C>T , CM000668.1:g.146350703C>T | GRCh37 |
| NC_000006.10:g.146392396C>T | NCBI36 |
| NG_012839.1:g.6922C>T | |
| NG_012839.2:g.6922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706833.1:c.50C>T | ENSP00000516579.1:p.Ser17Phe | |
| ENST00000706834.1:c.50C>T | ENSP00000516580.1:p.Ser17Phe | |
| ENST00000706835.1:c.50C>T | ENSP00000516581.1:p.Ser17Phe | |
| ENST00000706836.1:c.50C>T | ENSP00000516582.1:p.Ser17Phe | |
| ENST00000282753.6:c.50C>T MANE Select | ENSP00000282753.1:p.Ser17Phe | |
| ENST00000282753.5:c.50C>T | ENSP00000282753.1:p.Ser17Phe | |
| ENST00000355289.8:c.50C>T | ENSP00000347437.4:p.Ser17Phe | |
| ENST00000361719.6:c.50C>T | ENSP00000354896.2:p.Ser17Phe | |
| ENST00000492807.6:c.50C>T | ENSP00000424095.1:p.Ser17Phe | |
| ENST00000502405.1:n.460C>T | ||
| ENST00000507005.1:n.520C>T | ||
| ENST00000507907.1:c.50C>T | ENSP00000425599.1:p.Ser17Phe | |
| NM_001278064.1:c.50C>T | NP_001264993.1:p.Ser17Phe | |
| NM_001278065.1:c.50C>T | NP_001264994.1:p.Ser17Phe | |
| NM_001278066.1:c.50C>T | NP_001264995.1:p.Ser17Phe | |
| NM_001278067.1:c.50C>T | NP_001264996.1:p.Ser17Phe | |
| XM_011535782.1:c.50C>T | XP_011534084.1:p.Ser17Phe | |
| XM_011535783.1:c.50C>T | XP_011534085.1:p.Ser17Phe | |
| XM_011535784.1:c.50C>T | XP_011534086.1:p.Ser17Phe | |
| XM_017010783.1:c.50C>T | XP_016866272.1:p.Ser17Phe | |
| XM_017010784.1:c.50C>T | XP_016866273.1:p.Ser17Phe | |
| XM_017010785.1:c.50C>T | XP_016866274.1:p.Ser17Phe | |
| XM_017010786.1:c.50C>T | XP_016866275.1:p.Ser17Phe | |
| XM_017010787.1:c.50C>T | XP_016866276.1:p.Ser17Phe | |
| XM_024446412.1:c.50C>T | XP_024302180.1:p.Ser17Phe | |
| NM_001278064.2:c.50C>T MANE Select | NP_001264993.1:p.Ser17Phe | |
| NM_001278065.2:c.50C>T | NP_001264994.1:p.Ser17Phe |