Linked Data
ClinVar Variation Id:
4991
ClinVar RCV Id:
RCV000005279
dbSNP Id:
rs2230500
ExAC:
14:61924239 G / A
gnomAD v2:
14-61924239-G-A
gnomAD v3:
14-61457521-G-A
gnomAD v4:
14-61457521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61457521G>A , CM000676.2:g.61457521G>A | GRCh38 |
| NC_000014.8:g.61924239G>A , CM000676.1:g.61924239G>A | GRCh37 |
| NC_000014.7:g.60993992G>A | NCBI36 |
| NG_011514.1:g.140725G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332981.11:c.1120G>A MANE Select | ENSP00000329127.5:p.Val374Ile | |
| ENST00000332981.10:c.1120G>A | ENSP00000329127.5:p.Val374Ile | |
| ENST00000332981.9:c.1120G>A | ENSP00000329127.5:p.Val374Ile | |
| ENST00000553889.5:n.421G>A | ||
| ENST00000555082.5:c.637G>A | ENSP00000450981.1:p.Val213Ile | |
| ENST00000555185.5:c.-18-27981G>A | ENSP00000451871.1:n.-18-27981G>A | |
| ENST00000555604.1:n.16G>A | ||
| ENST00000557559.1:n.400G>A | ||
| ENST00000557585.5:c.637G>A | ENSP00000451930.1:p.Val213Ile | |
| NM_006255.4:c.1120G>A | NP_006246.2:p.Val374Ile | |
| XM_011536954.1:c.883G>A | XP_011535256.1:p.Val295Ile | |
| XM_011536955.1:c.880G>A | XP_011535257.1:p.Val294Ile | |
| XM_011536956.1:c.1120G>A | XP_011535258.1:p.Val374Ile | |
| XM_011536957.1:c.1120G>A | XP_011535259.1:p.Val374Ile | |
| XM_011536954.3:c.883G>A | XP_011535256.1:p.Val295Ile | |
| XM_017021458.1:c.637G>A | XP_016876947.1:p.Val213Ile | |
| XM_017021459.1:c.1120G>A | XP_016876948.1:p.Val374Ile | |
| XM_024449661.1:c.637G>A | XP_024305429.1:p.Val213Ile | |
| XM_024449662.1:c.637G>A | XP_024305430.1:p.Val213Ile | |
| NM_006255.5:c.1120G>A MANE Select | NP_006246.2:p.Val374Ile |