Linked Data
ClinVar Variation Id:
2602907
ClinVar RCV Id:
RCV003352175
dbSNP Id:
rs771799096
ExAC:
21:47557200 C / T
gnomAD v2:
21-47557200-C-T
gnomAD v3:
21-46137286-C-T
gnomAD v4:
21-46137286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46137286C>T , CM000683.2:g.46137286C>T | GRCh38 |
| NC_000021.8:g.47557200C>T , CM000683.1:g.47557200C>T | GRCh37 |
| NC_000021.7:g.46381628C>T | NCBI36 |
| NG_016191.1:g.23282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.28G>A | ENSP00000507070.1:p.Val10Met | |
| ENST00000494498.2:c.226G>A | ENSP00000507847.1:p.Val76Met | |
| ENST00000397746.8:c.1492G>A MANE Select | ENSP00000380854.3:p.Val498Met | |
| ENST00000291670.9:c.1492G>A | ENSP00000291670.5:p.Val498Met | |
| ENST00000397743.1:c.1448G>A | ENSP00000380851.1:p.Arg483His | |
| ENST00000397746.7:c.1492G>A | ENSP00000380854.3:p.Val498Met | |
| ENST00000397748.5:c.1492G>A | ENSP00000380856.1:p.Val498Met | |
| ENST00000446405.5:c.114G>A | ||
| ENST00000460011.5:n.821G>A | ||
| ENST00000483568.5:n.49G>A | ||
| ENST00000494498.1:n.793G>A | ||
| ENST00000498355.6:n.1561G>A | ||
| NM_006657.2:c.1492G>A | NP_006648.1:p.Val498Met | |
| NM_206965.1:c.1492G>A | NP_996848.1:p.Val498Met | |
| XM_006723961.2:c.1741G>A | XP_006724024.2:p.Val581Met | |
| XM_006723962.2:c.1741G>A | XP_006724025.2:p.Val581Met | |
| XM_011529434.1:c.1741G>A | XP_011527736.1:p.Val581Met | |
| XM_011529435.1:c.1612G>A | XP_011527737.1:p.Val538Met | |
| XM_011529436.1:c.1741G>A | XP_011527738.1:p.Val581Met | |
| XM_011529437.1:c.1741G>A | XP_011527739.1:p.Val581Met | |
| XM_011529438.1:c.1612G>A | XP_011527740.1:p.Val538Met | |
| XM_011529439.1:c.1228G>A | XP_011527741.1:p.Val410Met | |
| XR_937433.1:n.1924G>A | ||
| NM_001320412.1:c.1492G>A | NP_001307341.1:p.Val498Met | |
| XM_006723961.4:c.1741G>A | XP_006724024.2:p.Val581Met | |
| XM_006723962.4:c.1741G>A | XP_006724025.2:p.Val581Met | |
| XM_011529434.3:c.1741G>A | XP_011527736.1:p.Val581Met | |
| XM_011529435.3:c.1612G>A | XP_011527737.1:p.Val538Met | |
| XM_011529436.3:c.1741G>A | XP_011527738.1:p.Val581Met | |
| XM_011529437.3:c.1741G>A | XP_011527739.1:p.Val581Met | |
| XM_011529439.2:c.1228G>A | XP_011527741.1:p.Val410Met | |
| XR_937433.3:n.1958G>A | ||
| NM_206965.2:c.1492G>A MANE Select | NP_996848.1:p.Val498Met | |
| NM_001320412.2:c.1492G>A | NP_001307341.1:p.Val498Met | |
| NM_006657.3:c.1492G>A | NP_006648.1:p.Val498Met |