Linked Data
ClinVar Variation Id:
127700
ClinVar RCV Id:
RCV000115596
RCV000200450
RCV000213035
RCV000589835
RCV003891608
RCV001269488
RCV003149797
dbSNP Id:
rs200078204
ExAC:
19:1226555 C / T
gnomAD v2:
19-1226555-C-T
gnomAD v3:
19-1226556-C-T
gnomAD v4:
19-1226556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226556C>T , CM000681.2:g.1226556C>T | GRCh38 |
| NC_000019.9:g.1226555C>T , CM000681.1:g.1226555C>T | GRCh37 |
| NC_000019.8:g.1177555C>T | NCBI36 |
| NG_007460.2:g.42150C>T , LRG_319:g.42150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2812C>T | ENSP00000490268.2:n.*2812C>T | |
| ENST00000585748.3:c.839C>T | ENSP00000477641.2:p.Ser280Phe | |
| ENST00000585851.2:c.1037C>T | ENSP00000467912.2:p.Ser346Phe | |
| ENST00000326873.12:c.1211C>T MANE Select | ENSP00000324856.6:p.Ser404Phe | |
| ENST00000326873.11:c.1211C>T | ENSP00000324856.6:p.Ser404Phe | |
| ENST00000585465.2:n.2944C>T | ||
| ENST00000586243.5:c.1211C>T | ENSP00000467240.2:p.Ser404Phe | |
| ENST00000589152.5:n.1909C>T | ||
| NM_000455.4:c.1211C>T , LRG_319t1:c.1211C>T | NP_000446.1:p.Ser404Phe | |
| XM_005259617.1:c.1206C>T | XP_005259674.1:p.Ile402= | |
| XM_011528209.1:c.984C>T | XP_011526511.1:p.Ile328= | |
| XM_005259617.3:c.1206C>T | XP_005259674.1:p.Ile402= | |
| XM_011528209.2:c.984C>T | XP_011526511.1:p.Ile328= | |
| XR_001753738.2:n.2017C>T | ||
| XR_001753740.2:n.1987C>T | ||
| NM_000455.5:c.1211C>T MANE Select | NP_000446.1:p.Ser404Phe |