Linked Data
ClinVar Variation Id:
2616267
ClinVar RCV Id:
RCV003367721
dbSNP Id:
rs747876368
ExAC:
15:89402180 G / C
gnomAD v2:
15-89402180-G-C
gnomAD v3:
15-88858949-G-C
gnomAD v4:
15-88858949-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88858949G>C , CM000677.2:g.88858949G>C | GRCh38 |
| NC_000015.9:g.89402180G>C , CM000677.1:g.89402180G>C | GRCh37 |
| NC_000015.8:g.87203184G>C | NCBI36 |
| NG_012794.1:g.60507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439576.7:c.6364G>C | ENSP00000387356.2:p.Glu2122Gln | |
| ENST00000560601.4:c.6364G>C MANE Select | ENSP00000453581.2:p.Glu2122Gln | |
| ENST00000561243.7:c.6364G>C | ENSP00000453342.3:p.Glu2122Gln | |
| ENST00000352105.11:c.6364G>C | ENSP00000341615.7:p.Glu2122Gln | |
| ENST00000439576.6:c.6364G>C | ENSP00000387356.2:p.Glu2122Gln | |
| ENST00000559004.5:c.6364G>C | ENSP00000453499.1:p.Glu2122Gln | |
| ENST00000561243.5:c.6364G>C | ENSP00000453342.1:p.Glu2122Gln | |
| ENST00000617301.4:c.6307G>C | ENSP00000484456.1:p.Glu2103Gln | |
| NM_001135.3:c.6364G>C | NP_001126.3:p.Glu2122Gln | |
| NM_013227.3:c.6364G>C | NP_037359.3:p.Glu2122Gln | |
| XM_006720419.1:c.6364G>C | XP_006720482.1:p.Glu2122Gln | |
| XM_011521313.1:c.6364G>C | XP_011519615.1:p.Glu2122Gln | |
| XM_011521314.1:c.6364G>C | XP_011519616.1:p.Glu2122Gln | |
| NM_001369268.1:c.6364G>C MANE Select | NP_001356197.1:p.Glu2122Gln | |
| NM_001135.4:c.6364G>C | NP_001126.3:p.Glu2122Gln | |
| NM_013227.4:c.6364G>C | NP_037359.3:p.Glu2122Gln |