Linked Data
ClinVar Variation Id:
335161
dbSNP Id:
rs564992184
gnomAD v2:
2-240897468-G-A
gnomAD v3:
2-239958051-G-A
gnomAD v4:
2-239958051-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239958051G>A , CM000664.2:g.239958051G>A | GRCh38 |
| NC_000002.11:g.240897468G>A , CM000664.1:g.240897468G>A | GRCh37 |
| NC_000002.10:g.240546141G>A | NCBI36 |
| NG_031855.1:g.72352C>T | |
| NG_031855.2:g.72352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.*3067C>T MANE Select | ENSP00000252711.2:n.*3067C>T | |
| ENST00000476216.6:n.7274C>T | ||
| ENST00000676491.1:c.*900C>T | ENSP00000504528.1:n.*900C>T | |
| ENST00000676782.1:c.1000-19341C>T | ENSP00000504717.1:n.1000-19341C>T | |
| ENST00000676929.1:c.*1082C>T | ENSP00000503956.1:n.*1082C>T | |
| ENST00000677057.1:n.4029-45061C>T | ||
| ENST00000677155.1:c.*3324C>T | ENSP00000502921.1:n.*3324C>T | |
| ENST00000677294.1:c.*3067C>T | ENSP00000503461.1:n.*3067C>T | |
| ENST00000677324.1:n.6632C>T | ||
| ENST00000677395.1:c.*5831C>T | ENSP00000502890.1:n.*5831C>T | |
| ENST00000677407.1:c.1000-7033C>T | ENSP00000503141.1:n.1000-7033C>T | |
| ENST00000677692.1:n.5247C>T | ||
| ENST00000677764.1:c.*3446C>T | ENSP00000504547.1:n.*3446C>T | |
| ENST00000677979.1:c.*3614C>T | ENSP00000503341.1:n.*3614C>T | |
| ENST00000678158.1:c.*1150C>T | ENSP00000504765.1:n.*1150C>T | |
| ENST00000678188.1:n.7356C>T | ||
| ENST00000678455.1:c.*3067C>T | ENSP00000504395.1:n.*3067C>T | |
| ENST00000678468.1:c.*3673C>T | ENSP00000503925.1:n.*3673C>T | |
| ENST00000678562.1:c.*6970C>T | ENSP00000502954.1:n.*6970C>T | |
| ENST00000678832.1:c.*3791C>T | ENSP00000502992.1:n.*3791C>T | |
| ENST00000678914.1:c.*3067C>T | ENSP00000504515.1:n.*3067C>T | |
| ENST00000679183.1:c.999+32023C>T | ENSP00000503016.1:n.999+32023C>T | |
| ENST00000252711.6:c.*3067C>T | ENSP00000252711.2:n.*3067C>T | |
| ENST00000419408.5:c.294+32023C>T | ENSP00000408055.1:n.294+32023C>T | |
| NM_004544.3:c.*3067C>T | NP_004535.1:n.*3067C>T | |
| NM_001322020.1:c.*3072C>T | NP_001308949.1:n.*3072C>T | |
| NR_136155.1:n.7278C>T | ||
| NR_136156.1:n.7169C>T | ||
| NR_136157.1:n.7109C>T | ||
| NR_136158.1:n.4034-45061C>T | ||
| NM_004544.4:c.*3067C>T MANE Select | NP_004535.1:n.*3067C>T | |
| NM_001322020.2:c.*3072C>T | NP_001308949.1:n.*3072C>T | |
| NR_136155.2:n.7218C>T | ||
| NR_136156.2:n.7109C>T | ||
| NR_136157.2:n.7049C>T | ||
| NR_136158.2:n.3974-45061C>T |