Linked Data
ClinVar Variation Id:
1208939
ClinVar RCV Id:
RCV001577427
dbSNP Id:
rs111561640
gnomAD v2:
4-6302160-G-C
gnomAD v3:
4-6300433-G-C
gnomAD v4:
4-6300433-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300433G>C , CM000666.2:g.6300433G>C | GRCh38 |
| NC_000004.11:g.6302160G>C , CM000666.1:g.6302160G>C | GRCh37 |
| NC_000004.10:g.6353061G>C | NCBI36 |
| NG_011700.1:g.35584G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.898-224G>C | ENSP00000507852.1:n.898-224G>C | |
| ENST00000683395.1:c.839-224G>C | ||
| ENST00000684087.1:c.862-224G>C | ENSP00000506978.1:n.862-224G>C | |
| ENST00000506362.2:c.613-224G>C | ENSP00000424103.2:n.613-224G>C | |
| ENST00000673642.1:c.661-364G>C | ENSP00000501242.1:n.661-364G>C | |
| ENST00000673991.1:c.898-224G>C | ENSP00000501033.1:n.898-224G>C | |
| ENST00000226760.5:c.862-224G>C MANE Select | ENSP00000226760.1:n.862-224G>C | |
| ENST00000503569.5:c.862-224G>C | ENSP00000423337.1:n.862-224G>C | |
| ENST00000506362.1:c.495-224G>C | ||
| ENST00000507765.1:n.1047-224G>C | ||
| ENST00000513395.1:n.420-224G>C | ||
| NM_001145853.1:c.862-224G>C | NP_001139325.1:n.862-224G>C | |
| NM_006005.3:c.862-224G>C MANE Select | NP_005996.2:n.862-224G>C | |
| XM_017008586.1:c.871-224G>C | XP_016864075.1:n.871-224G>C |