Linked Data
dbSNP Id:
rs2295826
gnomAD v2:
14-53174923-A-G
gnomAD v3:
14-52708205-A-G
gnomAD v4:
14-52708205-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52708205A>G , CM000676.2:g.52708205A>G | GRCh38 |
| NC_000014.8:g.53174923A>G , CM000676.1:g.53174923A>G | GRCh37 |
| NC_000014.7:g.52244673A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445930.7:c.86-104A>G MANE Select | ENSP00000401802.3:n.86-104A>G | |
| ENST00000445930.6:c.128-104A>G | ENSP00000401802.2:n.128-104A>G | |
| ENST00000458604.6:n.122-278A>G | ||
| ENST00000553798.5:c.300-104A>G | ||
| ENST00000553899.5:c.*200-104A>G | ENSP00000452511.2:n.*200-104A>G | |
| ENST00000554044.5:c.86-104A>G | ENSP00000451340.2:n.86-104A>G | |
| ENST00000554952.5:n.104-104A>G | ||
| ENST00000554956.5:n.105-104A>G | ||
| ENST00000555339.5:c.86-559A>G | ENSP00000452048.2:n.86-559A>G | |
| ENST00000555887.5:n.128-104A>G | ||
| ENST00000556813.1:c.84-104A>G | ||
| ENST00000557240.5:c.86-104A>G | ENSP00000452072.2:n.86-104A>G | |
| ENST00000557517.1:c.244-104A>G | ||
| ENST00000606149.5:c.86-104A>G | ENSP00000475721.1:n.86-104A>G | |
| ENST00000612399.4:c.128-104A>G | ENSP00000484998.1:n.128-104A>G | |
| NM_002806.3:c.128-104A>G | NP_002797.3:n.128-104A>G | |
| XR_245706.2:n.143-104A>G | ||
| XR_943495.1:n.143-104A>G | ||
| NM_001366414.1:c.-1744-104A>G | NP_001353343.1:n.-1744-104A>G | |
| NM_002806.4:c.86-104A>G | NP_002797.4:n.86-104A>G | |
| NR_158967.1:n.106-104A>G | ||
| NM_002806.5:c.86-104A>G MANE Select | NP_002797.4:n.86-104A>G | |
| NM_001366414.2:c.-1744-104A>G | NP_001353343.1:n.-1744-104A>G | |
| NR_158967.2:n.106-104A>G |