Linked Data
dbSNP Id:
rs11205641
gnomAD v2:
1-50185075-A-G
gnomAD v3:
1-49719403-A-G
gnomAD v4:
1-49719403-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.49719403A>G , CM000663.2:g.49719403A>G | GRCh38 |
| NC_000001.10:g.50185075A>G , CM000663.1:g.50185075A>G | GRCh37 |
| NC_000001.9:g.49957662A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371839.6:c.158-21966T>C MANE Select | ENSP00000360905.1:n.158-21966T>C | |
| ENST00000371836.1:c.158-21966T>C | ENSP00000360902.1:n.158-21966T>C | |
| ENST00000371838.5:c.158-21966T>C | ENSP00000360904.1:n.158-21966T>C | |
| ENST00000371839.5:c.158-21966T>C | ENSP00000360905.1:n.158-21966T>C | |
| ENST00000497451.1:n.124-21966T>C | ||
| NM_032785.3:c.158-21966T>C | NP_116174.3:n.158-21966T>C | |
| XM_006710986.2:c.158-21966T>C | XP_006711049.1:n.158-21966T>C | |
| XM_011542308.1:c.158-21966T>C | XP_011540610.1:n.158-21966T>C | |
| XM_011542309.1:c.158-21966T>C | XP_011540611.1:n.158-21966T>C | |
| XM_011542310.1:c.158-21966T>C | XP_011540612.1:n.158-21966T>C | |
| XM_011542311.1:c.158-21966T>C | XP_011540613.1:n.158-21966T>C | |
| NM_001323573.1:c.158-21966T>C | NP_001310502.1:n.158-21966T>C | |
| NM_001323574.1:c.158-21966T>C | NP_001310503.1:n.158-21966T>C | |
| NM_001323575.1:c.158-21966T>C | NP_001310504.1:n.158-21966T>C | |
| NR_136623.1:n.315+131993T>C | ||
| XM_011542308.2:c.158-21966T>C | XP_011540610.1:n.158-21966T>C | |
| XM_011542310.2:c.158-21966T>C | XP_011540612.1:n.158-21966T>C | |
| XM_017002595.2:c.158-21966T>C | XP_016858084.1:n.158-21966T>C | |
| XM_017002596.2:c.158-21966T>C | XP_016858085.1:n.158-21966T>C | |
| XM_017002597.2:c.158-21966T>C | XP_016858086.1:n.158-21966T>C | |
| XM_017002598.2:c.158-21966T>C | XP_016858087.1:n.158-21966T>C | |
| XM_024450399.1:c.158-21966T>C | XP_024306167.1:n.158-21966T>C | |
| NM_032785.4:c.158-21966T>C MANE Select | NP_116174.3:n.158-21966T>C | |
| NM_001323573.2:c.158-21966T>C | NP_001310502.1:n.158-21966T>C | |
| NM_001323574.2:c.158-21966T>C | NP_001310503.1:n.158-21966T>C | |
| NM_001323575.2:c.158-21966T>C | NP_001310504.1:n.158-21966T>C | |
| NR_136623.2:n.315+131993T>C |