Linked Data
dbSNP Id:
rs776059194
gnomAD v2:
4-122614739-G-C
gnomAD v3:
4-121693584-G-C
gnomAD v4:
4-121693584-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121693584G>C , CM000666.2:g.121693584G>C | GRCh38 |
| NC_000004.11:g.122614739G>C , CM000666.1:g.122614739G>C | GRCh37 |
| NC_000004.10:g.122834189G>C | NCBI36 |
| NG_032042.1:g.8409C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.9+2997C>G MANE Select | ENSP00000296511.5:n.9+2997C>G | |
| ENST00000296511.9:c.9+2997C>G | ENSP00000296511.5:n.9+2997C>G | |
| ENST00000501272.6:c.9+2997C>G | ENSP00000424106.1:n.9+2997C>G | |
| ENST00000506395.5:c.9+2997C>G | ENSP00000421421.1:n.9+2997C>G | |
| ENST00000509016.5:n.130+3279C>G | ||
| ENST00000511552.5:n.395+2997C>G | ||
| ENST00000513428.5:n.174+2997C>G | ||
| ENST00000513523.1:n.177+2997C>G | ||
| ENST00000513728.1:c.9+2997C>G | ENSP00000427135.1:n.9+2997C>G | |
| ENST00000515017.5:c.9+2997C>G | ENSP00000424199.1:n.9+2997C>G | |
| NM_001154.3:c.9+2997C>G | NP_001145.1:n.9+2997C>G | |
| XM_017008141.2:c.9+2997C>G | XP_016863630.1:n.9+2997C>G | |
| NM_001154.4:c.9+2997C>G MANE Select | NP_001145.1:n.9+2997C>G |