Linked Data
ClinVar Variation Id:
12090
ClinVar RCV Id:
RCV000012871
dbSNP Id:
rs387906508
PubMed:
PMID:8940045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118590T>C , CM000675.2:g.113118590T>C | GRCh38 |
| NC_000013.10:g.113772904T>C , CM000675.1:g.113772904T>C | GRCh37 |
| NC_000013.9:g.112820905T>C | NCBI36 |
| NG_009258.1:g.792T>C , LRG_548:g.792T>C | |
| NG_009262.1:g.17800T>C , LRG_554:g.17800T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.917T>C MANE Select | ENSP00000329546.4:p.Phe306Ser | |
| ENST00000346342.7:c.917T>C | ENSP00000329546.3:p.Phe306Ser | |
| ENST00000375581.3:c.983T>C | ENSP00000364731.3:p.Phe328Ser | |
| ENST00000541084.5:c.731T>C | ENSP00000442051.2:p.Phe244Ser | |
| NM_000131.4:c.983T>C , LRG_554t1:c.983T>C | NP_000122.1:p.Phe328Ser | |
| NM_001267554.1:c.731T>C | NP_001254483.1:p.Phe244Ser | |
| NM_019616.3:c.917T>C , LRG_554t2:c.917T>C | NP_062562.1:p.Phe306Ser | |
| NR_051961.1:n.1004T>C | ||
| XM_006719963.2:c.776T>C | XP_006720026.1:p.Phe259Ser | |
| XM_011537474.1:c.1025T>C | XP_011535776.1:p.Phe342Ser | |
| XM_011537475.1:c.839T>C | XP_011535777.1:p.Phe280Ser | |
| XM_011537476.1:c.677T>C | XP_011535778.1:p.Phe226Ser | |
| XM_011537477.1:c.986T>C | XP_011535779.1:p.Phe329Ser | |
| XM_006719963.3:c.821T>C | XP_006720026.2:p.Phe274Ser | |
| XM_011537474.2:c.1070T>C | XP_011535776.2:p.Phe357Ser | |
| XM_011537475.2:c.884T>C | XP_011535777.2:p.Phe295Ser | |
| XM_011537476.2:c.677T>C | XP_011535778.1:p.Phe226Ser | |
| NM_019616.4:c.917T>C MANE Select | NP_062562.1:p.Phe306Ser | |
| NR_051961.2:n.1001T>C | ||
| NM_001267554.2:c.731T>C | NP_001254483.1:p.Phe244Ser |