Linked Data
dbSNP Id:
rs10817542
gnomAD v2:
9-116725481-G-A
gnomAD v3:
9-113963201-G-A
gnomAD v4:
9-113963201-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113963201G>A , CM000671.2:g.113963201G>A | GRCh38 |
| NC_000009.11:g.116725481G>A , CM000671.1:g.116725481G>A | GRCh37 |
| NC_000009.10:g.115765302G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374126.10:c.34-5916G>A MANE Select | ENSP00000363241.5:n.34-5916G>A | |
| ENST00000288466.11:c.34-5916G>A | ENSP00000288466.7:n.34-5916G>A | |
| ENST00000374124.4:c.34-5916G>A | ENSP00000363239.4:n.34-5916G>A | |
| ENST00000374126.9:c.34-5916G>A | ENSP00000363241.5:n.34-5916G>A | |
| ENST00000452710.5:c.34-5916G>A | ENSP00000395400.1:n.34-5916G>A | |
| ENST00000481558.1:n.33-5916G>A | ||
| ENST00000615615.4:c.34-5916G>A | ENSP00000483198.1:n.34-5916G>A | |
| NM_133374.2:c.34-5916G>A | NP_588615.2:n.34-5916G>A | |
| XM_005251692.2:c.34-5916G>A | XP_005251749.1:n.34-5916G>A | |
| XM_005251694.2:c.34-5916G>A | XP_005251751.1:n.34-5916G>A | |
| XM_005251695.2:c.34-5916G>A | XP_005251752.1:n.34-5916G>A | |
| XM_005251696.2:c.34-5916G>A | XP_005251753.1:n.34-5916G>A | |
| XM_005251699.2:c.34-5916G>A | XP_005251756.1:n.34-5916G>A | |
| XM_011518196.1:c.34-5916G>A | XP_011516498.1:n.34-5916G>A | |
| XM_011518197.1:c.34-5916G>A | XP_011516499.1:n.34-5916G>A | |
| XM_011518198.1:c.34-5916G>A | XP_011516500.1:n.34-5916G>A | |
| XM_011518199.1:c.34-5916G>A | XP_011516501.1:n.34-5916G>A | |
| XM_011518200.1:c.34-5916G>A | XP_011516502.1:n.34-5916G>A | |
| XM_011518201.1:c.34-5916G>A | XP_011516503.1:n.34-5916G>A | |
| XM_011518202.1:c.34-5916G>A | XP_011516504.1:n.34-5916G>A | |
| XM_011518203.1:c.34-5916G>A | XP_011516505.1:n.34-5916G>A | |
| XM_011518204.1:c.34-5916G>A | XP_011516506.1:n.34-5916G>A | |
| XM_011518205.1:c.34-5916G>A | XP_011516507.1:n.34-5916G>A | |
| XM_011518206.1:c.34-5916G>A | XP_011516508.1:n.34-5916G>A | |
| XM_011518207.1:c.34-5916G>A | XP_011516509.1:n.34-5916G>A | |
| XM_011518208.1:c.34-5916G>A | XP_011516510.1:n.34-5916G>A | |
| XM_011518210.1:c.34-5916G>A | XP_011516512.1:n.34-5916G>A | |
| NM_001318040.1:c.34-5916G>A | NP_001304969.1:n.34-5916G>A | |
| NM_001318041.1:c.34-5916G>A | NP_001304970.1:n.34-5916G>A | |
| NM_001318042.1:c.34-5916G>A | NP_001304971.1:n.34-5916G>A | |
| XM_005251692.3:c.34-5916G>A | XP_005251749.1:n.34-5916G>A | |
| XM_005251699.3:c.34-5916G>A | XP_005251756.1:n.34-5916G>A | |
| XM_011518200.2:c.34-5916G>A | XP_011516502.1:n.34-5916G>A | |
| XM_011518201.2:c.34-5916G>A | XP_011516503.1:n.34-5916G>A | |
| XM_011518203.3:c.34-5916G>A | XP_011516505.1:n.34-5916G>A | |
| XM_011518204.3:c.34-5916G>A | XP_011516506.1:n.34-5916G>A | |
| XM_017014241.2:c.34-5916G>A | XP_016869730.1:n.34-5916G>A | |
| XM_017014242.2:c.34-5916G>A | XP_016869731.1:n.34-5916G>A | |
| XM_017014243.2:c.34-5916G>A | XP_016869732.1:n.34-5916G>A | |
| XM_017014244.2:c.34-5916G>A | XP_016869733.1:n.34-5916G>A | |
| XM_017014245.2:c.34-5916G>A | XP_016869734.1:n.34-5916G>A | |
| XM_017014246.2:c.34-5916G>A | XP_016869735.1:n.34-5916G>A | |
| XM_017014248.2:c.34-5916G>A | XP_016869737.1:n.34-5916G>A | |
| XM_017014249.2:c.34-5916G>A | XP_016869738.1:n.34-5916G>A | |
| XM_017014250.2:c.34-5916G>A | XP_016869739.1:n.34-5916G>A | |
| XM_017014252.2:c.34-5916G>A | XP_016869741.1:n.34-5916G>A | |
| NM_001318041.2:c.34-5916G>A | NP_001304970.1:n.34-5916G>A | |
| NM_001318042.2:c.34-5916G>A MANE Select | NP_001304971.1:n.34-5916G>A | |
| NM_001318040.2:c.34-5916G>A | NP_001304969.1:n.34-5916G>A | |
| NM_133374.3:c.34-5916G>A | NP_588615.2:n.34-5916G>A |