Linked Data
dbSNP Id:
rs901689129
gnomAD v2:
11-2186345-G-A
gnomAD v3:
11-2165115-G-A
gnomAD v4:
11-2165115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2165115G>A , CM000673.2:g.2165115G>A | GRCh38 |
| NC_000011.9:g.2186345G>A , CM000673.1:g.2186345G>A | GRCh37 |
| NC_000011.8:g.2142921G>A | NCBI36 |
| NG_007114.1:g.1080C>T | |
| NG_008128.1:g.11691C>T | |
| NG_050578.1:g.1095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.1334+117C>T MANE Select | ENSP00000325951.4:n.1334+117C>T | |
| ENST00000333684.9:c.1052+117C>T | ENSP00000328814.6:n.1052+117C>T | |
| ENST00000352909.7:c.1334+117C>T | ENSP00000325951.3:n.1334+117C>T | |
| ENST00000381175.5:c.1415+117C>T | ENSP00000370567.1:n.1415+117C>T | |
| ENST00000381178.5:c.1427+117C>T | ENSP00000370571.1:n.1427+117C>T | |
| NM_000360.3:c.1334+117C>T | NP_000351.2:n.1334+117C>T | |
| NM_199292.2:c.1427+117C>T | NP_954986.2:n.1427+117C>T | |
| NM_199293.2:c.1415+117C>T | NP_954987.2:n.1415+117C>T | |
| XM_011520335.1:c.1346+117C>T | XP_011518637.1:n.1346+117C>T | |
| XM_011520335.2:c.1346+117C>T | XP_011518637.1:n.1346+117C>T | |
| NM_000360.4:c.1334+117C>T MANE Select | NP_000351.2:n.1334+117C>T | |
| NM_199292.3:c.1427+117C>T | NP_954986.2:n.1427+117C>T | |
| NM_199293.3:c.1415+117C>T | NP_954987.2:n.1415+117C>T |