Linked Data
ClinVar Variation Id:
8115
ClinVar RCV Id:
RCV002472354
dbSNP Id:
rs104894393
PubMed:
PMID:12489043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726785A>G , CM000675.2:g.101726785A>G | GRCh38 |
| NC_000013.10:g.102379135A>G , CM000675.1:g.102379135A>G | GRCh37 |
| NC_000013.9:g.101177136A>G | NCBI36 |
| NG_008317.1:g.679990T>C | |
| NG_008317.2:g.679990T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376131.9:c.449T>C | ENSP00000365301.3:p.Phe150Ser | |
| ENST00000418923.3:c.332T>C | ENSP00000516414.1:p.Phe111Ser | |
| ENST00000706491.1:c.*38T>C | ENSP00000516413.1:n.*38T>C | |
| ENST00000706492.1:c.*253T>C | ENSP00000516415.1:n.*253T>C | |
| ENST00000706493.1:c.*348T>C | ENSP00000516416.1:n.*348T>C | |
| ENST00000706494.1:c.182T>C | ENSP00000516417.1:p.Phe61Ser | |
| ENST00000376143.5:c.434T>C MANE Select | ENSP00000365313.4:p.Phe145Ser | |
| ENST00000376131.8:c.449T>C | ENSP00000365301.3:p.Phe150Ser | |
| ENST00000376143.4:c.434T>C | ENSP00000365313.4:p.Phe145Ser | |
| NM_004115.3:c.434T>C | NP_004106.1:p.Phe145Ser | |
| NM_175929.2:c.449T>C | NP_787125.1:p.Phe150Ser | |
| XM_011521053.1:c.254T>C | XP_011519355.1:p.Phe85Ser | |
| NM_001321931.1:c.182T>C | NP_001308860.1:p.Phe61Ser | |
| NM_001321932.1:c.245T>C | NP_001308861.1:p.Phe82Ser | |
| NM_001321933.1:c.254T>C | NP_001308862.1:p.Phe85Ser | |
| NM_001321934.1:c.182T>C | NP_001308863.1:p.Phe61Ser | |
| NM_001321935.1:c.182T>C | NP_001308864.1:p.Phe61Ser | |
| NM_001321936.1:c.245T>C | NP_001308865.1:p.Phe82Ser | |
| NM_001321938.1:c.254T>C | NP_001308867.1:p.Phe85Ser | |
| NM_001321939.1:c.338T>C | NP_001308868.1:p.Phe113Ser | |
| NM_001321940.1:c.254T>C | NP_001308869.1:p.Phe85Ser | |
| NM_001321941.1:c.248T>C | NP_001308870.1:p.Phe83Ser | |
| NM_001321942.1:c.182T>C | NP_001308871.1:p.Phe61Ser | |
| NM_001321943.1:c.182T>C | NP_001308872.1:p.Phe61Ser | |
| NM_001321944.1:c.245T>C | NP_001308873.1:p.Phe82Ser | |
| NM_001321945.1:c.332T>C | NP_001308874.1:p.Phe111Ser | |
| NM_001321946.1:c.182T>C | NP_001308875.1:p.Phe61Ser | |
| NM_001321947.1:c.293T>C | NP_001308876.1:p.Phe98Ser | |
| NM_001321948.1:c.332T>C | NP_001308877.1:p.Phe111Ser | |
| NM_001321949.1:c.182T>C | NP_001308878.1:p.Phe61Ser | |
| NM_001321938.2:c.254T>C | NP_001308867.1:p.Phe85Ser | |
| NM_001321945.2:c.332T>C | NP_001308874.1:p.Phe111Ser | |
| NM_001321946.2:c.182T>C | NP_001308875.1:p.Phe61Ser | |
| NM_001321947.2:c.293T>C | NP_001308876.1:p.Phe98Ser | |
| NM_001321948.2:c.332T>C | NP_001308877.1:p.Phe111Ser | |
| NM_001321939.2:c.338T>C | NP_001308868.1:p.Phe113Ser | |
| NM_001321941.2:c.248T>C | NP_001308870.1:p.Phe83Ser | |
| NM_001379342.1:c.332T>C | NP_001366271.1:p.Phe111Ser | |
| NM_004115.4:c.434T>C MANE Select | NP_004106.1:p.Phe145Ser | |
| NM_175929.3:c.449T>C | NP_787125.1:p.Phe150Ser |