Linked Data
dbSNP Id:
rs2629540
gnomAD v2:
10-126426148-G-C
gnomAD v3:
10-124737579-G-C
gnomAD v4:
10-124737579-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124737579G>C , CM000672.2:g.124737579G>C | GRCh38 |
| NC_000010.10:g.126426148G>C , CM000672.1:g.126426148G>C | GRCh37 |
| NC_000010.9:g.126416138G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337318.8:c.-175+6434C>G MANE Select | ENSP00000338532.3:n.-175+6434C>G | |
| ENST00000280780.6:c.-175+6434C>G | ENSP00000280780.6:n.-175+6434C>G | |
| ENST00000337318.7:c.-175+6434C>G | ENSP00000338532.3:n.-175+6434C>G | |
| ENST00000392754.7:c.-175+4849C>G | ENSP00000376509.3:n.-175+4849C>G | |
| ENST00000494792.1:c.628+22807C>G | ||
| NM_014661.3:c.-175+6434C>G | NP_055476.3:n.-175+6434C>G | |
| NM_014661.4:c.-175+6434C>G MANE Select | NP_055476.3:n.-175+6434C>G |