Linked Data
ClinVar Variation Id:
156703
ClinVar RCV Id:
RCV000190281
RCV000429373
RCV000477713
RCV000430308
RCV000439373
RCV000422164
RCV000419624
RCV000436863
RCV000440054
RCV001836737
dbSNP Id:
rs587777894
COSMIC:
COSM1686998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11124516G>A , CM000663.2:g.11124516G>A | GRCh38 |
| NC_000001.10:g.11184573G>A , CM000663.1:g.11184573G>A | GRCh37 |
| NC_000001.9:g.11107160G>A | NCBI36 |
| NG_033239.1:g.143036C>T , LRG_734:g.143036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2019C>T | ENSP00000515181.1:n.*2019C>T | |
| ENST00000703131.1:n.2645C>T | ||
| ENST00000703139.1:c.1281C>T | ||
| ENST00000703140.1:c.6431C>T | ENSP00000515197.1:p.Ser2144Phe | |
| ENST00000703141.1:c.*2161C>T | ENSP00000515198.1:n.*2161C>T | |
| ENST00000703142.1:c.*3474C>T | ENSP00000515199.1:n.*3474C>T | |
| ENST00000361445.9:c.6644C>T MANE Select | ENSP00000354558.4:p.Ser2215Phe | |
| ENST00000361445.8:c.6644C>T | ENSP00000354558.4:p.Ser2215Phe | |
| ENST00000376838.5:c.1259C>T | ENSP00000366034.1:p.Ser420Phe | |
| NM_004958.3:c.6644C>T , LRG_734t1:c.6644C>T | NP_004949.1:p.Ser2215Phe | |
| XM_005263438.1:c.6644C>T | XP_005263495.1:p.Ser2215Phe | |
| XR_244786.1:n.6765C>T | ||
| XM_005263438.2:c.6644C>T | XP_005263495.1:p.Ser2215Phe | |
| XM_017000900.1:c.5963C>T | XP_016856389.1:p.Ser1988Phe | |
| XM_017000901.1:c.5396C>T | XP_016856390.1:p.Ser1799Phe | |
| XM_024446187.1:c.6644C>T | XP_024301955.1:p.Ser2215Phe | |
| XR_001737087.1:n.6765C>T | ||
| NM_004958.4:c.6644C>T MANE Select | NP_004949.1:p.Ser2215Phe | |
| NM_001386500.1:c.6644C>T | NP_001373429.1:p.Ser2215Phe | |
| NM_001386501.1:c.5396C>T | NP_001373430.1:p.Ser1799Phe |