Linked Data
ClinVar Variation Id:
349724
dbSNP Id:
rs369761349
ExAC:
4:79359715 C / T
gnomAD v2:
4-79359715-C-T
gnomAD v3:
4-78438561-C-T
gnomAD v4:
4-78438561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78438561C>T , CM000666.2:g.78438561C>T | GRCh38 |
| NC_000004.11:g.79359715C>T , CM000666.1:g.79359715C>T | GRCh37 |
| NC_000004.10:g.79578739C>T | NCBI36 |
| NG_015812.1:g.385992C>T | |
| NG_015812.2:g.385992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.5218-9C>T | ENSP00000326330.6:n.5218-9C>T | |
| ENST00000682513.1:c.5218-9C>T | ENSP00000508201.1:n.5218-9C>T | |
| ENST00000684159.1:c.5218-9C>T | ENSP00000506875.1:n.5218-9C>T | |
| ENST00000512123.4:c.5218-9C>T MANE Select | ENSP00000422834.2:n.5218-9C>T | |
| ENST00000264899.10:c.845-5542C>T | ENSP00000264899.7:n.845-5542C>T | |
| ENST00000325942.10:c.5218-9C>T | ENSP00000326330.6:n.5218-9C>T | |
| ENST00000510944.3:c.566-9C>T | ||
| ENST00000512123.3:c.5218-9C>T | ENSP00000422834.2:n.5218-9C>T | |
| NM_001166133.1:c.5218-9C>T | NP_001159605.1:n.5218-9C>T | |
| NM_025074.6:c.5218-9C>T | NP_079350.5:n.5218-9C>T | |
| XM_006714314.1:c.5212-9C>T | XP_006714377.1:n.5212-9C>T | |
| XM_006714316.1:c.5218-9C>T | XP_006714379.1:n.5218-9C>T | |
| XM_011532270.1:c.2917-9C>T | XP_011530572.1:n.2917-9C>T | |
| XM_011532271.1:c.106-9C>T | XP_011530573.1:n.106-9C>T | |
| XM_006714316.3:c.5218-9C>T | XP_006714379.1:n.5218-9C>T | |
| NM_025074.7:c.5218-9C>T MANE Select | NP_079350.5:n.5218-9C>T | |
| NM_001166133.2:c.5218-9C>T | NP_001159605.1:n.5218-9C>T |