Linked Data
dbSNP Id:
rs12190800
gnomAD v2:
6-161928524-C-T
gnomAD v3:
6-161507492-C-T
gnomAD v4:
6-161507492-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161507492C>T , CM000668.2:g.161507492C>T | GRCh38 |
| NC_000006.11:g.161928524C>T , CM000668.1:g.161928524C>T | GRCh37 |
| NC_000006.10:g.161848514C>T | NCBI36 |
| NG_008289.1:g.1225311G>A | |
| NG_008289.2:g.1225311G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338468.8:c.961+41362G>A | ENSP00000343589.4:n.961+41362G>A | |
| ENST00000366894.6:c.842+41362G>A | ENSP00000355860.2:n.842+41362G>A | |
| ENST00000366898.6:c.1083+41362G>A MANE Select | ENSP00000355865.1:n.1083+41362G>A | |
| ENST00000673871.1:c.1078+41362G>A | ||
| ENST00000674006.1:n.468+41362G>A | ||
| ENST00000674436.1:n.719+41362G>A | ||
| ENST00000674501.1:n.1190+41362G>A | ||
| ENST00000338468.7:c.510+41362G>A | ENSP00000343589.3:n.510+41362G>A | |
| ENST00000366894.5:c.510+41362G>A | ENSP00000355860.1:n.510+41362G>A | |
| ENST00000366896.5:c.636+41362G>A | ENSP00000355862.1:n.636+41362G>A | |
| ENST00000366897.5:c.999+41362G>A | ENSP00000355863.1:n.999+41362G>A | |
| ENST00000366898.5:c.1083+41362G>A | ENSP00000355865.1:n.1083+41362G>A | |
| ENST00000479615.5:c.635-120615G>A | ENSP00000434414.1:n.635-120615G>A | |
| ENST00000610470.4:c.216+41362G>A | ENSP00000483773.1:n.216+41362G>A | |
| NM_004562.2:c.1083+41362G>A | NP_004553.2:n.1083+41362G>A | |
| NM_013987.2:c.999+41362G>A | NP_054642.2:n.999+41362G>A | |
| NM_013988.2:c.636+41362G>A | NP_054643.2:n.636+41362G>A | |
| XM_011535863.1:c.1080+41362G>A | XP_011534165.1:n.1080+41362G>A | |
| XM_011535865.1:c.1083+41362G>A | XP_011534167.1:n.1083+41362G>A | |
| XM_017010908.1:c.1197+41362G>A | XP_016866397.1:n.1197+41362G>A | |
| XM_017010909.2:c.843+41362G>A | XP_016866398.1:n.843+41362G>A | |
| XM_024446449.1:c.846+41362G>A | XP_024302217.1:n.846+41362G>A | |
| XR_001743443.2:n.1189+41362G>A | ||
| NM_004562.3:c.1083+41362G>A MANE Select | NP_004553.2:n.1083+41362G>A | |
| NM_013987.3:c.999+41362G>A | NP_054642.2:n.999+41362G>A | |
| NM_013988.3:c.636+41362G>A | NP_054643.2:n.636+41362G>A |