Linked Data
ClinVar Variation Id:
208607
dbSNP Id:
rs797045103
gnomAD v3:
1-220202376-T-C
gnomAD v4:
1-220202376-T-C
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220202376T>C , CM000663.2:g.220202376T>C | GRCh38 |
| NC_000001.10:g.220375718T>C , CM000663.1:g.220375718T>C | GRCh37 |
| NC_000001.9:g.218442341T>C | NCBI36 |
| NG_015837.1:g.75126A>G | |
| NG_015837.2:g.75126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.713-2A>G | ENSP00000509457.1:n.713-2A>G | |
| ENST00000685664.1:c.713-2A>G | ENSP00000509121.1:n.713-2A>G | |
| ENST00000686381.1:c.449-2A>G | ENSP00000509555.1:n.449-2A>G | |
| ENST00000687065.1:c.449-2A>G | ENSP00000510408.1:n.449-2A>G | |
| ENST00000687394.1:n.819-2A>G | ||
| ENST00000687647.1:c.449-2A>G | ENSP00000509205.1:n.449-2A>G | |
| ENST00000688035.1:n.1128-2A>G | ||
| ENST00000689820.1:c.713-2A>G | ENSP00000509387.1:n.713-2A>G | |
| ENST00000690315.1:c.712+3531A>G | ENSP00000509834.1:n.712+3531A>G | |
| ENST00000690373.1:n.1052-2A>G | ||
| ENST00000690379.1:n.743-2A>G | ||
| ENST00000690824.1:c.713-2A>G | ENSP00000510709.1:n.713-2A>G | |
| ENST00000691661.1:c.725-2A>G | ENSP00000510185.1:n.725-2A>G | |
| ENST00000691862.1:c.611-2A>G | ENSP00000509291.1:n.611-2A>G | |
| ENST00000692813.1:c.713-2A>G | ENSP00000509080.1:n.713-2A>G | |
| ENST00000692972.1:c.713-2A>G | ENSP00000510753.1:n.713-2A>G | |
| ENST00000693602.1:n.806-2A>G | ||
| ENST00000358951.7:c.713-2A>G MANE Select | ENSP00000351832.2:n.713-2A>G | |
| ENST00000237724.9:n.508-2A>G | ||
| ENST00000358951.6:c.713-2A>G | ENSP00000351832.2:n.713-2A>G | |
| ENST00000478976.1:n.292-11951A>G | ||
| ENST00000484658.1:c.417-2A>G | ||
| NM_012414.3:c.713-2A>G | NP_036546.2:n.713-2A>G | |
| NM_012414.4:c.713-2A>G MANE Select | NP_036546.2:n.713-2A>G |