Linked Data
dbSNP Id:
rs11752626
gnomAD v2:
6-118788652-G-T
gnomAD v3:
6-118467489-G-T
gnomAD v4:
6-118467489-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118467489G>T , CM000668.2:g.118467489G>T | GRCh38 |
| NC_000006.11:g.118788652G>T , CM000668.1:g.118788652G>T | GRCh37 |
| NC_000006.10:g.118895345G>T | NCBI36 |
| NG_021248.1:g.247587C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368491.8:c.2254+1583C>A MANE Select | ENSP00000357477.3:n.2254+1583C>A | |
| ENST00000368488.9:c.2263+1583C>A | ENSP00000357474.5:n.2263+1583C>A | |
| ENST00000368491.7:c.2254+1583C>A | ENSP00000357477.3:n.2254+1583C>A | |
| NM_001042475.2:c.2254+1583C>A | NP_001035940.1:n.2254+1583C>A | |
| NM_001178035.1:c.2263+1583C>A | NP_001171506.1:n.2263+1583C>A | |
| XM_005266970.1:c.1948+1583C>A | XP_005267027.1:n.1948+1583C>A | |
| XM_005266971.1:c.1948+1583C>A | XP_005267028.1:n.1948+1583C>A | |
| XM_005266972.3:c.1168+1583C>A | XP_005267029.1:n.1168+1583C>A | |
| XM_006715475.2:c.1948+1583C>A | XP_006715538.1:n.1948+1583C>A | |
| XM_011535808.1:c.2263+1583C>A | XP_011534110.1:n.2263+1583C>A | |
| XM_011535809.1:c.2254+1583C>A | XP_011534111.1:n.2254+1583C>A | |
| XM_011535810.1:c.2083+1583C>A | XP_011534112.1:n.2083+1583C>A | |
| XM_011535811.1:c.1948+1583C>A | XP_011534113.1:n.1948+1583C>A | |
| XM_011535812.1:c.1168+1583C>A | XP_011534114.1:n.1168+1583C>A | |
| XR_942924.1:n.1012G>T | ||
| XR_942925.1:n.1012G>T | ||
| XR_942926.1:n.1012G>T | ||
| XR_942927.1:n.1012G>T | ||
| XR_942928.1:n.1012G>T | ||
| XM_005266972.4:c.1168+1583C>A | XP_005267029.1:n.1168+1583C>A | |
| XM_006715475.4:c.1948+1583C>A | XP_006715538.1:n.1948+1583C>A | |
| XM_011535809.2:c.2254+1583C>A | XP_011534111.1:n.2254+1583C>A | |
| XM_011535810.2:c.2083+1583C>A | XP_011534112.1:n.2083+1583C>A | |
| XM_017010846.1:c.2263+1583C>A | XP_016866335.1:n.2263+1583C>A | |
| XM_024446429.1:c.2254+1583C>A | XP_024302197.1:n.2254+1583C>A | |
| XM_024446430.1:c.2074+1583C>A | XP_024302198.1:n.2074+1583C>A | |
| XR_001743822.2:n.1914G>T | ||
| XR_001743823.2:n.1914G>T | ||
| XR_001743824.2:n.1914G>T | ||
| NM_001042475.3:c.2254+1583C>A MANE Select | NP_001035940.1:n.2254+1583C>A | |
| NM_001178035.2:c.2263+1583C>A | NP_001171506.1:n.2263+1583C>A |