Linked Data
ClinVar Variation Id:
6982
ClinVar RCV Id:
RCV000007397
dbSNP Id:
rs121909069
ExAC:
18:3457604 C / T
gnomAD v2:
18-3457604-C-T
gnomAD v4:
18-3457606-C-T
PubMed:
PMID:10835638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.3457606C>T , CM000680.2:g.3457606C>T | GRCh38 |
| NC_000018.9:g.3457604C>T , CM000680.1:g.3457604C>T | GRCh37 |
| NC_000018.8:g.3447604C>T | NCBI36 |
| NG_007447.1:g.50533C>T | |
| NG_007447.2:g.50533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330513.10:c.425C>T | ENSP00000327959.6:p.Ser142Phe | |
| ENST00000343820.10:c.485C>T MANE Select | ENSP00000339631.6:p.Ser162Phe | |
| ENST00000330513.9:c.872C>T | ENSP00000327959.5:p.Ser291Phe | |
| ENST00000343820.9:c.485C>T | ENSP00000339631.5:p.Ser162Phe | |
| ENST00000345133.9:c.425C>T | ENSP00000343969.5:p.Ser142Phe | |
| ENST00000400167.6:c.425C>T | ENSP00000383031.2:p.Ser142Phe | |
| ENST00000401449.5:c.425C>T | ENSP00000385206.1:p.Ser142Phe | |
| ENST00000405385.7:c.425C>T | ENSP00000384970.2:p.Ser142Phe | |
| ENST00000407501.6:c.485C>T | ENSP00000384133.2:p.Ser162Phe | |
| ENST00000472042.1:c.425C>T | ENSP00000449501.1:p.Ser142Phe | |
| ENST00000548489.6:c.425C>T | ENSP00000447747.2:p.Ser142Phe | |
| ENST00000549546.5:c.425C>T | ENSP00000449580.1:p.Ser142Phe | |
| ENST00000549780.5:c.425C>T | ENSP00000448121.1:p.Ser142Phe | |
| ENST00000551541.5:c.425C>T | ENSP00000450025.1:p.Ser142Phe | |
| ENST00000552383.5:c.425C>T | ENSP00000449287.1:p.Ser142Phe | |
| ENST00000618001.4:c.527C>T | ENSP00000483499.1:p.Ser176Phe | |
| NM_001278682.1:c.494C>T | NP_001265611.1:p.Ser165Phe | |
| NM_001278684.1:c.485C>T | NP_001265613.1:p.Ser162Phe | |
| NM_001278686.1:c.425C>T | NP_001265615.1:p.Ser142Phe | |
| NM_003244.3:c.485C>T | NP_003235.1:p.Ser162Phe | |
| NM_170695.3:c.872C>T | NP_733796.2:p.Ser291Phe | |
| NM_173207.2:c.527C>T | NP_775299.1:p.Ser176Phe | |
| NM_173208.2:c.485C>T | NP_775300.1:p.Ser162Phe | |
| NM_173209.2:c.425C>T | NP_775301.1:p.Ser142Phe | |
| NM_173210.2:c.425C>T | NP_775302.1:p.Ser142Phe | |
| NM_173211.1:c.425C>T | NP_775303.1:p.Ser142Phe | |
| NM_174886.2:c.425C>T | NP_777480.1:p.Ser142Phe | |
| XM_011525735.1:c.425C>T | XP_011524037.1:p.Ser142Phe | |
| XM_011525735.2:c.425C>T | XP_011524037.1:p.Ser142Phe | |
| XM_017025958.1:c.485C>T | XP_016881447.1:p.Ser162Phe | |
| XM_017025959.1:c.425C>T | XP_016881448.1:p.Ser142Phe | |
| NM_001278682.2:c.494C>T | NP_001265611.1:p.Ser165Phe | |
| NM_001278684.2:c.485C>T | NP_001265613.1:p.Ser162Phe | |
| NM_001278686.2:c.425C>T | NP_001265615.1:p.Ser142Phe | |
| NM_001374396.1:c.425C>T | NP_001361325.1:p.Ser142Phe | |
| NM_001374397.1:c.425C>T | NP_001361326.1:p.Ser142Phe | |
| NM_003244.4:c.485C>T MANE Select | NP_003235.1:p.Ser162Phe | |
| NM_170695.5:c.425C>T | NP_733796.3:p.Ser142Phe | |
| NM_173207.4:c.527C>T | NP_775299.1:p.Ser176Phe | |
| NM_173208.3:c.485C>T | NP_775300.1:p.Ser162Phe | |
| NM_173209.3:c.425C>T | NP_775301.1:p.Ser142Phe | |
| NM_173210.4:c.425C>T | NP_775302.1:p.Ser142Phe | |
| NM_173211.2:c.425C>T | NP_775303.1:p.Ser142Phe | |
| NM_174886.3:c.425C>T | NP_777480.1:p.Ser142Phe | |
| NM_001278686.3:c.425C>T | NP_001265615.1:p.Ser142Phe |