Linked Data
dbSNP Id:
rs13146355
gnomAD v2:
4-77412140-G-A
gnomAD v3:
4-76490987-G-A
gnomAD v4:
4-76490987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76490987G>A , CM000666.2:g.76490987G>A | GRCh38 |
| NC_000004.11:g.77412140G>A , CM000666.1:g.77412140G>A | GRCh37 |
| NC_000004.10:g.77631164G>A | NCBI36 |
| NG_028077.1:g.60888G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296043.7:c.168+54767G>A MANE Select | ENSP00000296043.6:n.168+54767G>A | |
| ENST00000296043.6:c.168+54767G>A | ENSP00000296043.6:n.168+54767G>A | |
| ENST00000466541.1:n.75+54767G>A | ||
| ENST00000497440.5:n.109+54767G>A | ||
| NM_020859.3:c.168+54767G>A | NP_065910.3:n.168+54767G>A | |
| XM_005263162.3:c.168+54767G>A | XP_005263219.1:n.168+54767G>A | |
| XM_011532158.1:c.168+54767G>A | XP_011530460.1:n.168+54767G>A | |
| XM_011532159.1:c.168+54767G>A | XP_011530461.1:n.168+54767G>A | |
| XM_011532158.3:c.168+54767G>A | XP_011530460.1:n.168+54767G>A | |
| NM_020859.4:c.168+54767G>A MANE Select | NP_065910.3:n.168+54767G>A |