Linked Data
ClinVar Variation Id:
127265
dbSNP Id:
rs11886868
gnomAD v2:
2-60720246-C-T
gnomAD v3:
2-60493111-C-T
gnomAD v4:
2-60493111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60493111C>T , CM000664.2:g.60493111C>T | GRCh38 |
| NC_000002.11:g.60720246C>T , CM000664.1:g.60720246C>T | GRCh37 |
| NC_000002.10:g.60573750C>T | NCBI36 |
| NG_011968.1:g.65388G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335712.11:c.386-30687G>A | ENSP00000338774.7:n.386-30687G>A | |
| ENST00000356842.9:c.386-24278G>A | ENSP00000349300.4:n.386-24278G>A | |
| ENST00000358510.6:c.386-30687G>A | ENSP00000351307.5:n.386-30687G>A | |
| ENST00000359629.10:c.386-24278G>A | ENSP00000352648.5:n.386-24278G>A | |
| ENST00000489516.7:c.380-24278G>A | ENSP00000488390.2:n.380-24278G>A | |
| ENST00000492272.6:n.228-24278G>A | ||
| ENST00000642384.2:c.386-24278G>A MANE Select | ENSP00000496168.1:n.386-24278G>A | |
| ENST00000642439.1:c.386-30687G>A | ENSP00000493484.1:n.386-30687G>A | |
| ENST00000643222.1:c.371-30687G>A | ENSP00000495862.1:n.371-30687G>A | |
| ENST00000643459.1:c.371-24278G>A | ENSP00000494996.1:n.371-24278G>A | |
| ENST00000644606.1:n.425-24278G>A | ||
| ENST00000645455.1:n.202-24278G>A | ||
| ENST00000646249.1:c.386-30687G>A | ENSP00000495759.1:n.386-30687G>A | |
| ENST00000647472.1:c.232-14872G>A | ||
| ENST00000335712.10:c.386-24278G>A | ENSP00000338774.6:n.386-24278G>A | |
| ENST00000356842.8:c.386-24278G>A | ENSP00000349300.4:n.386-24278G>A | |
| ENST00000358510.5:c.386-30687G>A | ENSP00000351307.4:n.386-30687G>A | |
| ENST00000359629.9:c.386-24278G>A | ENSP00000352648.5:n.386-24278G>A | |
| ENST00000477659.1:n.69-24278G>A | ||
| ENST00000489516.6:c.230-24278G>A | ENSP00000488390.1:n.230-24278G>A | |
| ENST00000492272.5:n.228-24278G>A | ||
| ENST00000631857.1:c.*100+15495G>A | ENSP00000488886.1:n.*100+15495G>A | |
| NM_018014.3:c.386-24278G>A | NP_060484.2:n.386-24278G>A | |
| NM_022893.3:c.386-24278G>A | NP_075044.2:n.386-24278G>A | |
| NM_138559.1:c.386-24278G>A | NP_612569.1:n.386-24278G>A | |
| XM_011532909.1:c.386-24278G>A | XP_011531211.1:n.386-24278G>A | |
| XM_011532910.1:c.386-24278G>A | XP_011531212.1:n.386-24278G>A | |
| XM_011532911.1:c.386-30687G>A | XP_011531213.1:n.386-30687G>A | |
| XM_011532912.1:c.386-30687G>A | XP_011531214.1:n.386-30687G>A | |
| XM_011532913.1:c.380-24278G>A | XP_011531215.1:n.380-24278G>A | |
| XM_011532914.1:c.380-30687G>A | XP_011531216.1:n.380-30687G>A | |
| XM_011532915.1:c.52+23316G>A | XP_011531217.1:n.52+23316G>A | |
| NM_001363864.1:c.386-30687G>A | NP_001350793.1:n.386-30687G>A | |
| NM_001365609.1:c.386-30687G>A | NP_001352538.1:n.386-30687G>A | |
| XM_017004333.1:c.380-24278G>A | XP_016859822.1:n.380-24278G>A | |
| XM_017004335.1:c.380-30687G>A | XP_016859824.1:n.380-30687G>A | |
| XM_017004336.1:c.52+23316G>A | XP_016859825.1:n.52+23316G>A | |
| XM_024452962.1:c.230-24278G>A | XP_024308730.1:n.230-24278G>A | |
| XM_024452963.1:c.230-24278G>A | XP_024308731.1:n.230-24278G>A | |
| NM_018014.4:c.386-24278G>A | NP_060484.2:n.386-24278G>A | |
| NM_022893.4:c.386-24278G>A MANE Select | NP_075044.2:n.386-24278G>A | |
| NM_138559.2:c.386-24278G>A | NP_612569.1:n.386-24278G>A |