Linked Data
ClinVar Variation Id:
355531
dbSNP Id:
rs199552223
ExAC:
6:137167207 G / T
gnomAD v2:
6-137167207-G-T
gnomAD v3:
6-136846069-G-T
gnomAD v4:
6-136846069-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136846069G>T , CM000668.2:g.136846069G>T | GRCh38 |
| NC_000006.11:g.137167207G>T , CM000668.1:g.137167207G>T | GRCh37 |
| NC_000006.10:g.137208900G>T | NCBI36 |
| NG_008462.1:g.28490G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.418-4G>T MANE Select | ENSP00000315680.3:n.418-4G>T | |
| ENST00000541292.6:c.418-4G>T | ENSP00000441004.1:n.418-4G>T | |
| ENST00000678002.1:c.214+19600G>T | ||
| ENST00000678557.1:c.304-4G>T | ENSP00000502962.1:n.304-4G>T | |
| ENST00000678593.1:c.423-4G>T | ENSP00000503841.1:n.423-4G>T | |
| ENST00000679286.1:c.298-4G>T | ENSP00000503168.1:n.298-4G>T | |
| ENST00000318471.4:c.418-4G>T | ENSP00000315680.3:n.418-4G>T | |
| ENST00000541292.5:c.418-4G>T | ENSP00000441004.1:n.418-4G>T | |
| NM_000288.3:c.418-4G>T | NP_000279.1:n.418-4G>T | |
| XM_005267019.3:c.304-4G>T | XP_005267076.1:n.304-4G>T | |
| XM_006715502.1:c.339+19600G>T | XP_006715565.1:n.339+19600G>T | |
| XM_011535900.1:c.418-4G>T | XP_011534202.1:n.418-4G>T | |
| XM_005267019.4:c.304-4G>T | XP_005267076.1:n.304-4G>T | |
| XM_006715502.2:c.339+19600G>T | XP_006715565.1:n.339+19600G>T | |
| XM_017010934.2:c.418-4G>T | XP_016866423.1:n.418-4G>T | |
| NM_000288.4:c.418-4G>T MANE Select | NP_000279.1:n.418-4G>T |