Linked Data
ClinVar Variation Id:
849
ClinVar RCV Id:
RCV000000897
dbSNP Id:
rs118203954
ExAC:
12:108924063 C / T
gnomAD v2:
12-108924063-C-T
gnomAD v3:
12-108530286-C-T
gnomAD v4:
12-108530286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108530286C>T , CM000674.2:g.108530286C>T | GRCh38 |
| NC_000012.11:g.108924063C>T , CM000674.1:g.108924063C>T | GRCh37 |
| NC_000012.10:g.107448193C>T | NCBI36 |
| NG_012155.1:g.36103G>A | |
| NG_012155.2:g.36104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228284.8:c.1825G>A | ENSP00000228284.4:p.Val609Met | |
| ENST00000546815.6:c.1771G>A MANE Select | ENSP00000449386.2:p.Val591Met | |
| ENST00000651280.1:c.*927G>A | ENSP00000498612.1:n.*927G>A | |
| ENST00000228284.7:c.1771G>A | ENSP00000228284.3:p.Val591Met | |
| ENST00000431469.6:c.1663G>A | ENSP00000414453.2:p.Val555Met | |
| ENST00000546728.5:c.*665G>A | ENSP00000449743.1:n.*665G>A | |
| ENST00000546815.5:c.1825G>A | ENSP00000449386.1:p.Val609Met | |
| ENST00000547528.5:c.*935G>A | ENSP00000446577.1:n.*935G>A | |
| ENST00000548582.5:n.498G>A | ||
| ENST00000619503.4:n.707G>A | ||
| NM_014706.3:c.1771G>A | NP_055521.1:p.Val591Met | |
| XM_005269241.3:c.1825G>A | XP_005269298.1:p.Val609Met | |
| XM_011539026.1:c.907G>A | XP_011537328.1:p.Val303Met | |
| NM_014706.4:c.1771G>A MANE Select | NP_055521.1:p.Val591Met | |
| XM_005269241.5:c.1825G>A | XP_005269298.1:p.Val609Met | |
| XM_024449284.1:c.907G>A | XP_024305052.1:p.Val303Met |