Linked Data
dbSNP Id:
rs13013415
gnomAD v2:
2-128519797-T-C
gnomAD v3:
2-127762223-T-C
gnomAD v4:
2-127762223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127762223T>C , CM000664.2:g.127762223T>C | GRCh38 |
| NC_000002.11:g.128519797T>C , CM000664.1:g.128519797T>C | GRCh37 |
| NC_000002.10:g.128236267T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322313.9:c.724+839A>G MANE Select | ENSP00000325377.3:n.724+839A>G | |
| ENST00000322313.8:c.724+839A>G | ENSP00000325377.3:n.724+839A>G | |
| ENST00000393006.5:c.724+839A>G | ENSP00000376730.1:n.724+839A>G | |
| ENST00000436787.5:c.490+839A>G | ENSP00000397547.1:n.490+839A>G | |
| NM_001006623.2:c.724+839A>G | NP_001006624.1:n.724+839A>G | |
| NM_018383.4:c.724+839A>G | NP_060853.3:n.724+839A>G | |
| XM_005263697.1:c.724+839A>G | XP_005263754.1:n.724+839A>G | |
| XM_011511436.1:c.724+839A>G | XP_011509738.1:n.724+839A>G | |
| XM_005263697.3:c.724+839A>G | XP_005263754.1:n.724+839A>G | |
| XM_017004436.2:c.724+839A>G | XP_016859925.1:n.724+839A>G | |
| NM_018383.5:c.724+839A>G MANE Select | NP_060853.3:n.724+839A>G | |
| NM_001006623.3:c.724+839A>G | NP_001006624.1:n.724+839A>G | |
| NM_001006623.4:c.724+839A>G | NP_001006624.1:n.724+839A>G |