Linked Data
ClinVar Variation Id:
7796
ClinVar RCV Id:
RCV000008239
dbSNP Id:
rs137853091
gnomAD v2:
2-166615372-G-T
gnomAD v4:
2-165758862-G-T
PubMed:
PMID:16940445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165758862G>T , CM000664.2:g.165758862G>T | GRCh38 |
| NC_000002.11:g.166615372G>T , CM000664.1:g.166615372G>T | GRCh37 |
| NC_000002.10:g.166323618G>T | NCBI36 |
| NG_012069.1:g.40432C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392701.8:c.1076C>A MANE Select | ENSP00000376465.3:p.Thr359Lys | |
| ENST00000392701.7:c.1076C>A | ENSP00000376465.3:p.Thr359Lys | |
| ENST00000409882.5:c.290C>A | ENSP00000386955.1:p.Thr97Lys | |
| ENST00000412248.5:c.1076C>A | ENSP00000412643.1:p.Thr359Lys | |
| ENST00000437849.1:c.504C>A | ENSP00000391104.1:n.504C>A | |
| ENST00000463254.1:n.359C>A | ||
| NM_004482.3:c.1076C>A | NP_004473.2:p.Thr359Lys | |
| XM_005246449.1:c.1076C>A | XP_005246506.1:p.Thr359Lys | |
| XM_006712402.2:c.1076C>A | XP_006712465.1:p.Thr359Lys | |
| XM_011510929.1:c.1076C>A | XP_011509231.1:p.Thr359Lys | |
| XM_017003770.1:c.1076C>A | XP_016859259.1:p.Thr359Lys | |
| XR_002959253.1:n.1417C>A | ||
| NM_004482.4:c.1076C>A MANE Select | NP_004473.2:p.Thr359Lys |