Linked Data
dbSNP Id:
rs2431332
gnomAD v2:
5-78321109-A-G
gnomAD v3:
5-79025286-A-G
gnomAD v4:
5-79025286-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79025286A>G , CM000667.2:g.79025286A>G | GRCh38 |
| NC_000005.9:g.78321109A>G , CM000667.1:g.78321109A>G | GRCh37 |
| NC_000005.8:g.78356865A>G | NCBI36 |
| NG_012164.1:g.49341T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255189.8:c.2191-956T>C MANE Select | ENSP00000255189.3:n.2191-956T>C | |
| ENST00000255189.7:c.2191-956T>C | ENSP00000255189.3:n.2191-956T>C | |
| ENST00000517853.5:c.*953-956T>C | ENSP00000428995.1:n.*953-956T>C | |
| ENST00000518477.5:c.*1425-956T>C | ENSP00000427834.1:n.*1425-956T>C | |
| ENST00000523732.1:c.1708-956T>C | ENSP00000430972.1:n.1708-956T>C | |
| NM_013391.3:c.2191-956T>C MANE Select | NP_037523.2:n.2191-956T>C | |
| NR_104002.1:n.1776-956T>C | ||
| NR_104003.1:n.1328-956T>C | ||
| XM_006714597.1:c.2191-956T>C | XP_006714660.1:n.2191-956T>C | |
| XM_011543354.1:c.2191-956T>C | XP_011541656.1:n.2191-956T>C | |
| XM_011543355.1:c.2191-956T>C | XP_011541657.1:n.2191-956T>C | |
| XM_006714597.2:c.2191-956T>C | XP_006714660.1:n.2191-956T>C | |
| XM_011543355.2:c.2191-956T>C | XP_011541657.1:n.2191-956T>C | |
| NR_104002.2:n.1776-956T>C | ||
| NR_104003.2:n.1328-956T>C | ||
| NR_104002.3:n.1776-956T>C | ||
| NR_104003.3:n.1328-956T>C |