Linked Data
dbSNP Id:
rs16892673
gnomAD v2:
6-161933935-G-A
gnomAD v3:
6-161512903-G-A
gnomAD v4:
6-161512903-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161512903G>A , CM000668.2:g.161512903G>A | GRCh38 |
| NC_000006.11:g.161933935G>A , CM000668.1:g.161933935G>A | GRCh37 |
| NC_000006.10:g.161853925G>A | NCBI36 |
| NG_008289.1:g.1219900C>T | |
| NG_008289.2:g.1219900C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338468.8:c.961+35951C>T | ENSP00000343589.4:n.961+35951C>T | |
| ENST00000366894.6:c.842+35951C>T | ENSP00000355860.2:n.842+35951C>T | |
| ENST00000366898.6:c.1083+35951C>T MANE Select | ENSP00000355865.1:n.1083+35951C>T | |
| ENST00000673871.1:c.1078+35951C>T | ||
| ENST00000674006.1:n.468+35951C>T | ||
| ENST00000674436.1:n.719+35951C>T | ||
| ENST00000674501.1:n.1190+35951C>T | ||
| ENST00000338468.7:c.510+35951C>T | ENSP00000343589.3:n.510+35951C>T | |
| ENST00000366894.5:c.510+35951C>T | ENSP00000355860.1:n.510+35951C>T | |
| ENST00000366896.5:c.636+35951C>T | ENSP00000355862.1:n.636+35951C>T | |
| ENST00000366897.5:c.999+35951C>T | ENSP00000355863.1:n.999+35951C>T | |
| ENST00000366898.5:c.1083+35951C>T | ENSP00000355865.1:n.1083+35951C>T | |
| ENST00000479615.5:c.635-126026C>T | ENSP00000434414.1:n.635-126026C>T | |
| ENST00000610470.4:c.216+35951C>T | ENSP00000483773.1:n.216+35951C>T | |
| NM_004562.2:c.1083+35951C>T | NP_004553.2:n.1083+35951C>T | |
| NM_013987.2:c.999+35951C>T | NP_054642.2:n.999+35951C>T | |
| NM_013988.2:c.636+35951C>T | NP_054643.2:n.636+35951C>T | |
| XM_011535863.1:c.1080+35951C>T | XP_011534165.1:n.1080+35951C>T | |
| XM_011535865.1:c.1083+35951C>T | XP_011534167.1:n.1083+35951C>T | |
| XM_017010908.1:c.1197+35951C>T | XP_016866397.1:n.1197+35951C>T | |
| XM_017010909.2:c.843+35951C>T | XP_016866398.1:n.843+35951C>T | |
| XM_024446449.1:c.846+35951C>T | XP_024302217.1:n.846+35951C>T | |
| XR_001743443.2:n.1189+35951C>T | ||
| NM_004562.3:c.1083+35951C>T MANE Select | NP_004553.2:n.1083+35951C>T | |
| NM_013987.3:c.999+35951C>T | NP_054642.2:n.999+35951C>T | |
| NM_013988.3:c.636+35951C>T | NP_054643.2:n.636+35951C>T |