Linked Data
ClinVar Variation Id:
337544
dbSNP Id:
rs758645617
ExAC:
2:96951026 C / T
gnomAD v2:
2-96951026-C-T
gnomAD v3:
2-96285288-C-T
gnomAD v4:
2-96285288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96285288C>T , CM000664.2:g.96285288C>T | GRCh38 |
| NC_000002.11:g.96951026C>T , CM000664.1:g.96951026C>T | GRCh37 |
| NC_000002.10:g.96314753C>T | NCBI36 |
| NG_016973.1:g.25272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.4056G>A MANE Select | ENSP00000317123.5:p.Thr1352= | |
| ENST00000652267.1:c.4056G>A | ENSP00000498933.1:p.Thr1352= | |
| ENST00000323853.9:c.4056G>A | ENSP00000317123.5:p.Thr1352= | |
| ENST00000429650.1:c.-300G>A | ENSP00000387870.1:n.-300G>A | |
| ENST00000480615.1:n.1173G>A | ||
| NM_014014.4:c.4056G>A | NP_054733.2:p.Thr1352= | |
| NM_014014.5:c.4056G>A MANE Select | NP_054733.2:p.Thr1352= |