Linked Data
dbSNP Id:
rs2595104
gnomAD v2:
4-111553133-T-G
gnomAD v3:
4-110631977-T-G
gnomAD v4:
4-110631977-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110631977T>G , CM000666.2:g.110631977T>G | GRCh38 |
| NC_000004.11:g.111553133T>G , CM000666.1:g.111553133T>G | GRCh37 |
| NC_000004.10:g.111772582T>G | NCBI36 |
| NG_007120.1:g.10376A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.184+366A>C | ENSP00000484763.2:n.184+366A>C | |
| ENST00000616641.5:n.171+366A>C | ||
| ENST00000394595.8:c.184+366A>C | ENSP00000378095.4:n.184+366A>C | |
| ENST00000354925.6:c.184+366A>C | ENSP00000347004.2:n.184+366A>C | |
| ENST00000355080.9:c.46+976A>C | ENSP00000347192.5:n.46+976A>C | |
| ENST00000394595.7:c.184+366A>C | ENSP00000378095.3:n.184+366A>C | |
| ENST00000394598.6:c.184+366A>C | ENSP00000378097.2:n.184+366A>C | |
| ENST00000511837.5:c.184+366A>C | ENSP00000421454.1:n.184+366A>C | |
| ENST00000511990.1:c.46+976A>C | ENSP00000424142.1:n.46+976A>C | |
| ENST00000613094.4:c.184+366A>C | ENSP00000484763.1:n.184+366A>C | |
| ENST00000614423.4:c.184+366A>C | ENSP00000481951.1:n.184+366A>C | |
| ENST00000616641.4:c.46+976A>C | ENSP00000484909.1:n.46+976A>C | |
| NM_001204397.1:c.184+366A>C | NP_001191326.1:n.184+366A>C | |
| NM_001204398.1:c.184+366A>C | NP_001191327.1:n.184+366A>C | |
| NM_001204399.1:c.46+976A>C | NP_001191328.1:n.46+976A>C | |
| NM_153426.2:c.184+366A>C | NP_700475.1:n.184+366A>C | |
| NM_153427.2:c.46+976A>C | NP_700476.1:n.46+976A>C | |
| XM_006714235.2:c.184+366A>C | XP_006714298.1:n.184+366A>C | |
| XM_011532027.1:c.46+976A>C | XP_011530329.1:n.46+976A>C | |
| NM_001204397.2:c.184+366A>C | NP_001191326.1:n.184+366A>C | |
| NM_153426.3:c.184+366A>C | NP_700475.1:n.184+366A>C | |
| NM_153427.3:c.46+976A>C | NP_700476.1:n.46+976A>C |