Linked Data
ClinVar Variation Id:
193120
ClinVar RCV Id:
RCV000195021
RCV000286296
RCV000341315
RCV000515346
RCV000724000
RCV000660363
RCV001079683
RCV004535183
dbSNP Id:
rs200092211
ExAC:
2:152955521 G / A
gnomAD v2:
2-152955521-G-A
gnomAD v3:
2-152099007-G-A
gnomAD v4:
2-152099007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152099007G>A , CM000664.2:g.152099007G>A | GRCh38 |
| NC_000002.11:g.152955521G>A , CM000664.1:g.152955521G>A | GRCh37 |
| NC_000002.10:g.152663767G>A | NCBI36 |
| NG_012641.1:g.5073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201943.10:c.5C>T | ENSP00000201943.5:p.Ser2Phe | |
| ENST00000427385.6:c.5C>T | ENSP00000410978.2:p.Ser2Phe | |
| ENST00000470066.2:n.134C>T | ||
| ENST00000539935.7:c.5C>T MANE Select | ENSP00000438949.1:p.Ser2Phe | |
| ENST00000637309.1:c.5C>T | ENSP00000490127.1:p.Ser2Phe | |
| ENST00000201943.9:c.5C>T | ENSP00000201943.5:p.Ser2Phe | |
| ENST00000539935.5:c.5C>T | ENSP00000438949.1:p.Ser2Phe | |
| NM_000726.3:c.5C>T | NP_000717.2:p.Ser2Phe | |
| NM_001145798.1:c.5C>T | NP_001139270.1:p.Ser2Phe | |
| XM_011511797.1:c.5C>T | XP_011510099.1:p.Ser2Phe | |
| XM_011511798.1:c.5C>T | XP_011510100.1:p.Ser2Phe | |
| XM_011511799.1:c.5C>T | XP_011510101.1:p.Ser2Phe | |
| XR_923022.1:n.982C>T | ||
| XR_923023.1:n.982C>T | ||
| NM_000726.4:c.5C>T | NP_000717.2:p.Ser2Phe | |
| NM_001145798.2:c.5C>T | NP_001139270.1:p.Ser2Phe | |
| XM_011511797.3:c.5C>T | XP_011510099.1:p.Ser2Phe | |
| XR_002959337.1:n.158C>T | ||
| XR_923022.3:n.158C>T | ||
| NM_000726.5:c.5C>T MANE Select | NP_000717.2:p.Ser2Phe |