Linked Data
ClinVar Variation Id:
2930222
ClinVar RCV Id:
RCV003787580
dbSNP Id:
rs549934040
gnomAD v2:
2-20137524-C-A
gnomAD v3:
2-19937763-C-A
gnomAD v4:
2-19937763-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19937763C>A , CM000664.2:g.19937763C>A | GRCh38 |
| NC_000002.11:g.20137524C>A , CM000664.1:g.20137524C>A | GRCh37 |
| NC_000002.10:g.20001005C>A | NCBI36 |
| NG_021212.1:g.57361G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2247G>T MANE Select | ENSP00000281405.5:p.Thr749= | |
| ENST00000345530.8:c.2280G>T MANE Plus Clinical | ENSP00000314444.5:p.Thr760= | |
| ENST00000281405.8:c.2247G>T | ENSP00000281405.4:p.Thr749= | |
| ENST00000345530.7:c.2280G>T | ENSP00000314444.5:p.Thr760= | |
| ENST00000414212.5:c.2280G>T | ENSP00000390802.1:p.Thr760= | |
| ENST00000445063.5:c.1723G>T | ||
| ENST00000453014.1:c.885G>T | ENSP00000404409.1:p.Thr295= | |
| NM_001006657.1:c.2280G>T | NP_001006658.1:p.Thr760= | |
| NM_020779.3:c.2247G>T | NP_065830.2:p.Thr749= | |
| XM_011533007.1:c.975G>T | XP_011531309.1:p.Thr325= | |
| XR_426989.2:n.2280G>T | ||
| XM_011533007.2:c.975G>T | XP_011531309.1:p.Thr325= | |
| XR_001738862.1:n.2224G>T | ||
| XR_426989.3:n.2280G>T | ||
| NM_001006657.2:c.2280G>T MANE Plus Clinical | NP_001006658.1:p.Thr760= | |
| NM_020779.4:c.2247G>T MANE Select | NP_065830.2:p.Thr749= |