Linked Data
dbSNP Id:
rs12467609
gnomAD v2:
2-135143287-C-T
gnomAD v3:
2-134385716-C-T
gnomAD v4:
2-134385716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134385716C>T , CM000664.2:g.134385716C>T | GRCh38 |
| NC_000002.11:g.135143287C>T , CM000664.1:g.135143287C>T | GRCh37 |
| NC_000002.10:g.134859757C>T | NCBI36 |
| NG_030324.1:g.136458C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281923.4:c.1381-17272C>T MANE Select | ENSP00000281923.2:n.1381-17272C>T | |
| ENST00000281923.3:c.1381-17272C>T | ENSP00000281923.2:n.1381-17272C>T | |
| ENST00000409645.5:c.1381-17272C>T | ENSP00000386377.1:n.1381-17272C>T | |
| NM_002410.4:c.1381-17272C>T | NP_002401.1:n.1381-17272C>T | |
| XM_005263668.3:c.1381-17272C>T | XP_005263725.1:n.1381-17272C>T | |
| XM_005263669.3:c.1381-17272C>T | XP_005263726.1:n.1381-17272C>T | |
| XM_005263670.2:c.1381-17272C>T | XP_005263727.1:n.1381-17272C>T | |
| XM_006712534.2:c.1381-17272C>T | XP_006712597.1:n.1381-17272C>T | |
| XM_006712535.2:c.1381-17272C>T | XP_006712598.1:n.1381-17272C>T | |
| XM_011511199.1:c.1381-17272C>T | XP_011509501.1:n.1381-17272C>T | |
| XM_011511200.1:c.1381-17272C>T | XP_011509502.1:n.1381-17272C>T | |
| XM_011511201.1:c.1381-17272C>T | XP_011509503.1:n.1381-17272C>T | |
| XM_011511202.1:c.1381-17272C>T | XP_011509504.1:n.1381-17272C>T | |
| XM_011511203.1:c.1381-17272C>T | XP_011509505.1:n.1381-17272C>T | |
| XM_005263668.5:c.1381-17272C>T | XP_005263725.1:n.1381-17272C>T | |
| XM_005263669.5:c.1381-17272C>T | XP_005263726.1:n.1381-17272C>T | |
| XM_005263670.3:c.1381-17272C>T | XP_005263727.1:n.1381-17272C>T | |
| XM_006712534.3:c.1381-17272C>T | XP_006712597.1:n.1381-17272C>T | |
| XM_011511199.2:c.1381-17272C>T | XP_011509501.1:n.1381-17272C>T | |
| XM_011511201.2:c.1381-17272C>T | XP_011509503.1:n.1381-17272C>T | |
| XM_011511202.2:c.1381-17272C>T | XP_011509504.1:n.1381-17272C>T | |
| XM_017004147.2:c.1381-17272C>T | XP_016859636.1:n.1381-17272C>T | |
| XM_017004148.1:c.1381-17272C>T | XP_016859637.1:n.1381-17272C>T | |
| NM_002410.5:c.1381-17272C>T MANE Select | NP_002401.1:n.1381-17272C>T | |
| NM_001371457.1:c.1381-17272C>T | NP_001358386.1:n.1381-17272C>T |