Linked Data
dbSNP Id:
rs78619453
gnomAD v2:
9-133308682-C-G
gnomAD v3:
9-130433295-C-G
gnomAD v4:
9-130433295-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433295C>G , CM000671.2:g.130433295C>G | GRCh38 |
| NC_000009.11:g.133308682C>G , CM000671.1:g.133308682C>G | GRCh37 |
| NC_000009.10:g.132298503C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14838-53C>G | ENSP00000485357.2:n.14838-53C>G | |
| ENST00000683500.2:c.14895-53C>G MANE Select | ENSP00000508292.2:n.14895-53C>G | |
| ENST00000623487.1:n.3188C>G | ||
| ENST00000624552.3:c.14835-53C>G | ENSP00000485357.1:n.14835-53C>G | |
| NM_001291815.1:c.14895-53C>G | NP_001278744.1:n.14895-53C>G | |
| XM_011518465.1:c.14772-53C>G | XP_011516767.1:n.14772-53C>G | |
| XM_011518466.1:c.14763-53C>G | XP_011516768.1:n.14763-53C>G | |
| XM_011518467.1:c.14718-53C>G | XP_011516769.1:n.14718-53C>G | |
| NM_001291815.2:c.14895-53C>G MANE Select | NP_001278744.1:n.14895-53C>G | |
| XM_011518465.2:c.14772-53C>G | XP_011516767.1:n.14772-53C>G | |
| XM_011518466.2:c.14763-53C>G | XP_011516768.1:n.14763-53C>G | |
| XM_011518467.2:c.14718-53C>G | XP_011516769.1:n.14718-53C>G | |
| XM_017014585.1:c.11676-53C>G | XP_016870074.1:n.11676-53C>G | |
| XM_017014586.1:c.7473-53C>G | XP_016870075.1:n.7473-53C>G | |
| XR_001746957.1:n.92+326G>C | ||
| XR_001746958.1:n.92+326G>C |