Linked Data
ClinVar Variation Id:
310797
ClinVar RCV Id:
RCV000394919
dbSNP Id:
rs886049919
gnomAD v3:
12-98593982-T-C
gnomAD v4:
12-98593982-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98593982T>C , CM000674.2:g.98593982T>C | GRCh38 |
| NC_000012.11:g.98987760T>C , CM000674.1:g.98987760T>C | GRCh37 |
| NC_000012.10:g.97511891T>C | NCBI36 |
| NG_011702.1:g.5358T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228318.8:c.4T>C MANE Plus Clinical | ENSP00000228318.3:p.Phe2Leu | |
| ENST00000552981.6:c.4T>C MANE Select | ENSP00000448708.2:p.Phe2Leu | |
| ENST00000188376.9:c.4T>C | ENSP00000188376.5:p.Phe2Leu | |
| ENST00000228318.7:c.4T>C | ENSP00000228318.3:p.Phe2Leu | |
| ENST00000401722.7:c.4T>C | ENSP00000383898.3:p.Phe2Leu | |
| ENST00000546766.5:n.94T>C | ||
| ENST00000547534.5:c.4T>C | ENSP00000449793.1:p.Phe2Leu | |
| ENST00000548046.5:c.4T>C | ENSP00000447339.1:p.Phe2Leu | |
| ENST00000548847.1:c.4T>C | ENSP00000449166.1:p.Phe2Leu | |
| ENST00000549338.5:c.4T>C | ENSP00000447740.1:p.Phe2Leu | |
| ENST00000550695.1:c.4T>C | ENSP00000449479.1:p.Phe2Leu | |
| ENST00000551123.5:c.4T>C | ENSP00000449009.1:p.Phe2Leu | |
| ENST00000551265.5:c.4T>C | ENSP00000448969.1:p.Phe2Leu | |
| ENST00000551917.5:c.4T>C | ENSP00000447310.1:p.Phe2Leu | |
| ENST00000552981.5:c.4T>C | ENSP00000448708.1:p.Phe2Leu | |
| NM_002635.3:c.4T>C | NP_002626.1:p.Phe2Leu | |
| NM_005888.3:c.4T>C | NP_005879.1:p.Phe2Leu | |
| NM_213611.2:c.4T>C | NP_998776.1:p.Phe2Leu | |
| NM_002635.4:c.4T>C MANE Select | NP_002626.1:p.Phe2Leu | |
| NM_213611.3:c.4T>C | NP_998776.1:p.Phe2Leu | |
| NM_005888.4:c.4T>C MANE Plus Clinical | NP_005879.1:p.Phe2Leu |