Linked Data
ClinVar Variation Id:
419700
dbSNP Id:
rs747453876
ExAC:
10:102546770 T / C
gnomAD v2:
10-102546770-T-C
gnomAD v3:
10-100787013-T-C
gnomAD v4:
10-100787013-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100787013T>C , CM000672.2:g.100787013T>C | GRCh38 |
| NC_000010.10:g.102546770T>C , CM000672.1:g.102546770T>C | GRCh37 |
| NC_000010.9:g.102536760T>C | NCBI36 |
| NG_008680.1:g.46303T>C | |
| NG_008680.2:g.56305T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.709+5648T>C | ENSP00000516729.1:n.709+5648T>C | |
| ENST00000707079.1:c.685+2T>C | ENSP00000516730.1:n.685+2T>C | |
| ENST00000355243.8:c.616+5648T>C MANE Select | ENSP00000347385.3:n.616+5648T>C | |
| ENST00000427256.6:c.616+5648T>C | ENSP00000398652.2:n.616+5648T>C | |
| ENST00000679374.1:c.598+5648T>C | ENSP00000506041.1:n.598+5648T>C | |
| ENST00000355243.7:c.616+5648T>C | ENSP00000347385.2:n.616+5648T>C | |
| ENST00000361791.7:c.613+5648T>C | ENSP00000355069.4:n.613+5648T>C | |
| ENST00000370296.6:c.616+5648T>C | ENSP00000359319.3:n.616+5648T>C | |
| ENST00000428433.5:c.685+2T>C | ENSP00000396259.1:n.685+2T>C | |
| ENST00000553492.5:n.337+5648T>C | ||
| ENST00000554172.2:c.604+5672T>C | ENSP00000452489.2:n.604+5672T>C | |
| ENST00000554363.2:n.331+5648T>C | ||
| NM_000278.3:c.616+5648T>C | NP_000269.2:n.616+5648T>C | |
| NM_001304569.1:c.709+5648T>C | NP_001291498.1:n.709+5648T>C | |
| NM_003987.3:c.685+2T>C | NP_003978.2:n.685+2T>C | |
| NM_003988.3:c.616+5648T>C | NP_003979.2:n.616+5648T>C | |
| NM_003989.3:c.616+5648T>C | NP_003980.2:n.616+5648T>C | |
| NM_003990.3:c.685+2T>C | NP_003981.2:n.685+2T>C | |
| NM_000278.4:c.616+5648T>C | NP_000269.3:n.616+5648T>C | |
| NM_003987.4:c.685+2T>C | NP_003978.3:n.685+2T>C | |
| NM_003988.4:c.616+5648T>C | NP_003979.2:n.616+5648T>C | |
| NM_003989.4:c.616+5648T>C | NP_003980.3:n.616+5648T>C | |
| NM_003990.4:c.685+2T>C | NP_003981.3:n.685+2T>C | |
| NM_000278.5:c.616+5648T>C MANE Select | NP_000269.3:n.616+5648T>C | |
| NM_001304569.2:c.709+5648T>C | NP_001291498.1:n.709+5648T>C | |
| NM_003987.5:c.685+2T>C | NP_003978.3:n.685+2T>C | |
| NM_003988.5:c.616+5648T>C | NP_003979.2:n.616+5648T>C | |
| NM_003989.5:c.616+5648T>C | NP_003980.3:n.616+5648T>C | |
| NM_003990.5:c.685+2T>C | NP_003981.3:n.685+2T>C |