Linked Data
ClinVar Variation Id:
217865
ClinVar RCV Id:
RCV000201931
dbSNP Id:
rs863225286
PubMed:
PMID:22961547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202243T>C , CM000666.2:g.80202243T>C | GRCh38 |
| NC_000004.11:g.81123397T>C , CM000666.1:g.81123397T>C | GRCh37 |
| NC_000004.10:g.81342421T>C | NCBI36 |
| NG_046725.1:g.21974T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415738.3:c.781T>C MANE Select | ENSP00000406998.2:p.Phe261Leu | |
| ENST00000339711.8:c.781T>C | ENSP00000339764.4:p.Phe261Leu | |
| ENST00000415738.2:c.781T>C | ENSP00000406998.2:p.Phe261Leu | |
| ENST00000504452.5:c.781T>C | ENSP00000423985.1:p.Phe261Leu | |
| ENST00000515013.5:c.781T>C | ENSP00000425149.1:p.Phe261Leu | |
| NM_001099403.1:c.781T>C | NP_001092873.1:p.Phe261Leu | |
| NM_020226.3:c.781T>C | NP_064611.3:p.Phe261Leu | |
| XM_005263144.2:c.784T>C | XP_005263201.1:p.Phe262Leu | |
| XM_005263145.2:c.784T>C | XP_005263202.1:p.Phe262Leu | |
| XM_005263146.3:c.781T>C | XP_005263203.1:p.Phe261Leu | |
| XM_011532133.1:c.1624T>C | XP_011530435.1:p.Phe542Leu | |
| XM_011532134.1:c.1621T>C | XP_011530436.1:p.Phe541Leu | |
| XM_011532135.1:c.1483T>C | XP_011530437.1:p.Phe495Leu | |
| XM_011532136.1:c.1336T>C | XP_011530438.1:p.Phe446Leu | |
| XM_011532137.1:c.1336T>C | XP_011530439.1:p.Phe446Leu | |
| XM_011532138.1:c.1336T>C | XP_011530440.1:p.Phe446Leu | |
| XM_011532139.1:c.1336T>C | XP_011530441.1:p.Phe446Leu | |
| XM_011532140.1:c.1336T>C | XP_011530442.1:p.Phe446Leu | |
| XM_011532141.1:c.1198T>C | XP_011530443.1:p.Phe400Leu | |
| XM_011532142.1:c.1177T>C | XP_011530444.1:p.Phe393Leu | |
| XM_005263146.4:c.781T>C | XP_005263203.1:p.Phe261Leu | |
| XM_011532133.2:c.1624T>C | XP_011530435.1:p.Phe542Leu | |
| XM_011532135.2:c.1483T>C | XP_011530437.1:p.Phe495Leu | |
| XM_011532140.2:c.1336T>C | XP_011530442.1:p.Phe446Leu | |
| XM_011532141.3:c.1198T>C | XP_011530443.1:p.Phe400Leu | |
| XM_017008468.1:c.1333T>C | XP_016863957.1:p.Phe445Leu | |
| XM_017008469.1:c.1420T>C | XP_016863958.1:p.Phe474Leu | |
| XM_017008470.1:c.1336T>C | XP_016863959.1:p.Phe446Leu | |
| NM_001099403.2:c.781T>C MANE Select | NP_001092873.1:p.Phe261Leu | |
| NM_020226.4:c.781T>C | NP_064611.3:p.Phe261Leu |