Linked Data
dbSNP Id:
rs1031381
gnomAD v2:
11-134088682-G-A
gnomAD v3:
11-134218788-G-A
gnomAD v4:
11-134218788-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134218788G>A , CM000673.2:g.134218788G>A | GRCh38 |
| NC_000011.9:g.134088682G>A , CM000673.1:g.134088682G>A | GRCh37 |
| NC_000011.8:g.133593892G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525432.2:n.241-1690C>T | ||
| ENST00000525964.7:c.220-1690C>T | ENSP00000431612.2:n.220-1690C>T | |
| ENST00000534532.7:c.220-1690C>T | ENSP00000434168.2:n.220-1690C>T | |
| ENST00000685324.1:c.220-1690C>T | ENSP00000508707.1:n.220-1690C>T | |
| ENST00000687155.1:n.280-1690C>T | ||
| ENST00000687480.1:n.276-1690C>T | ||
| ENST00000688263.1:c.220-1690C>T | ENSP00000510008.1:n.220-1690C>T | |
| ENST00000688672.1:c.220-1690C>T | ENSP00000510391.1:n.220-1690C>T | |
| ENST00000689205.1:c.320+1603C>T | ENSP00000510550.1:n.320+1603C>T | |
| ENST00000690743.1:c.219+1784C>T | ENSP00000508701.1:n.219+1784C>T | |
| ENST00000692494.1:n.262-1690C>T | ||
| ENST00000534548.7:c.220-1690C>T MANE Select | ENSP00000433681.3:n.220-1690C>T | |
| ENST00000525964.6:c.220-1690C>T | ENSP00000431612.2:n.220-1690C>T | |
| ENST00000533155.5:c.219+1784C>T | ENSP00000431413.1:n.219+1784C>T | |
| ENST00000534532.6:c.220-1690C>T | ENSP00000434168.2:n.220-1690C>T | |
| ENST00000534548.6:c.220-1690C>T | ENSP00000433681.2:n.220-1690C>T | |
| NM_015261.2:c.220-1690C>T | NP_056076.1:n.220-1690C>T | |
| XM_011542718.1:c.220-1690C>T | XP_011541020.1:n.220-1690C>T | |
| XM_011542719.1:c.-33+1784C>T | XP_011541021.1:n.-33+1784C>T | |
| XR_947815.1:n.543-1690C>T | ||
| XR_947816.1:n.543-1690C>T | ||
| XM_011542719.2:c.-33+1784C>T | XP_011541021.1:n.-33+1784C>T | |
| XM_024448406.1:c.220-1690C>T | XP_024304174.1:n.220-1690C>T | |
| XM_024448407.1:c.220-1690C>T | XP_024304175.1:n.220-1690C>T | |
| XR_001747803.2:n.652-1690C>T | ||
| XR_947815.3:n.652-1690C>T | ||
| NM_001372065.1:c.220-1690C>T | NP_001358994.1:n.220-1690C>T | |
| NM_001372068.1:c.220-1690C>T | NP_001358997.1:n.220-1690C>T | |
| NM_001372069.1:c.-33+1784C>T | NP_001358998.1:n.-33+1784C>T | |
| NM_001372070.1:c.-196+1603C>T | NP_001358999.1:n.-196+1603C>T | |
| NM_015261.3:c.220-1690C>T MANE Select | NP_056076.1:n.220-1690C>T |