Linked Data
ClinVar Variation Id:
1144923
ClinVar RCV Id:
RCV001483582
dbSNP Id:
rs757968557
ExAC:
14:74947476 G / A
gnomAD v2:
14-74947476-G-A
gnomAD v3:
14-74480773-G-A
gnomAD v4:
14-74480773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74480773G>A , CM000676.2:g.74480773G>A | GRCh38 |
| NC_000014.8:g.74947476G>A , CM000676.1:g.74947476G>A | GRCh37 |
| NC_000014.7:g.74017229G>A | NCBI36 |
| NG_007117.1:g.17609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.370C>T MANE Select | ENSP00000451112.2:p.Leu124= | |
| ENST00000238633.6:c.370C>T | ENSP00000238633.2:p.Leu124= | |
| ENST00000434013.6:c.370C>T | ENSP00000412103.2:p.Leu124= | |
| ENST00000541064.5:c.364-485C>T | ENSP00000442488.1:n.364-485C>T | |
| ENST00000553490.5:c.370C>T | ENSP00000451180.1:p.Leu124= | |
| ENST00000554482.1:c.165C>T | ENSP00000451314.1:n.165C>T | |
| ENST00000555619.5:c.370C>T | ENSP00000451112.1:p.Leu124= | |
| ENST00000556009.5:c.435C>T | ||
| ENST00000557510.5:c.370C>T | ENSP00000451206.1:p.Leu124= | |
| NM_006432.3:c.370C>T | NP_006423.1:p.Leu124= | |
| NM_001363688.1:c.370C>T | NP_001350617.1:p.Leu124= | |
| NM_006432.4:c.370C>T | NP_006423.1:p.Leu124= | |
| NM_001375440.1:c.364-485C>T | NP_001362369.1:n.364-485C>T | |
| NM_006432.5:c.370C>T MANE Select | NP_006423.1:p.Leu124= |