Linked Data
ClinVar Variation Id:
14834
dbSNP Id:
rs121912550
ExAC:
7:128038611 C / T
gnomAD v2:
7-128038611-C-T
gnomAD v4:
7-128398557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128398557C>T , CM000669.2:g.128398557C>T | GRCh38 |
| NC_000007.13:g.128038611C>T , CM000669.1:g.128038611C>T | GRCh37 |
| NC_000007.12:g.127825847C>T | NCBI36 |
| NG_009194.1:g.16426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.823G>A | ENSP00000265385.8:p.Asp275Asn | |
| ENST00000484496.6:n.806G>A | ||
| ENST00000338791.11:c.931G>A MANE Select | ENSP00000345096.6:p.Asp311Asn | |
| ENST00000648462.1:c.563G>A | ||
| ENST00000338791.10:c.931G>A | ENSP00000345096.6:p.Asp311Asn | |
| ENST00000348127.10:c.823G>A | ENSP00000265385.8:p.Asp275Asn | |
| ENST00000354269.9:c.901G>A | ENSP00000346219.5:p.Asp301Asn | |
| ENST00000419067.6:c.832G>A | ENSP00000399400.2:p.Asp278Asn | |
| ENST00000468842.1:n.520G>A | ||
| ENST00000469328.5:c.696G>A | ||
| ENST00000470772.5:c.673G>A | ENSP00000417296.1:p.Asp225Asn | |
| ENST00000480861.5:c.661G>A | ENSP00000420185.1:p.Asp221Asn | |
| ENST00000484496.5:c.806G>A | ENSP00000418742.1:n.806G>A | |
| ENST00000496200.5:c.601G>A | ENSP00000420803.1:p.Asp201Asn | |
| ENST00000497868.5:c.724G>A | ENSP00000419609.1:p.Asp242Asn | |
| ENST00000626419.2:c.673G>A | ENSP00000486056.1:p.Asp225Asn | |
| NM_000883.3:c.931G>A | NP_000874.2:p.Asp311Asn | |
| NM_001102605.1:c.901G>A | NP_001096075.1:p.Asp301Asn | |
| NM_001142573.1:c.676G>A | NP_001136045.1:p.Asp226Asn | |
| NM_001142574.1:c.661G>A | NP_001136046.1:p.Asp221Asn | |
| NM_001142575.1:c.601G>A | NP_001136047.1:p.Asp201Asn | |
| NM_001142576.1:c.832G>A | NP_001136048.1:p.Asp278Asn | |
| NM_001304521.1:c.724G>A | NP_001291450.1:p.Asp242Asn | |
| NM_183243.2:c.823G>A | NP_899066.1:p.Asp275Asn | |
| XM_005250314.1:c.700G>A | XP_005250371.1:p.Asp234Asn | |
| XM_006715967.1:c.931G>A | XP_006716030.1:p.Asp311Asn | |
| XM_006715968.1:c.901G>A | XP_006716031.1:p.Asp301Asn | |
| XM_006715969.1:c.823G>A | XP_006716032.1:p.Asp275Asn | |
| XM_006715970.2:c.724G>A | XP_006716033.1:p.Asp242Asn | |
| XM_006715971.1:c.700G>A | XP_006716034.1:p.Asp234Asn | |
| XM_011516156.1:c.313G>A | XP_011514458.1:p.Asp105Asn | |
| XM_011516157.1:c.313G>A | XP_011514459.1:p.Asp105Asn | |
| XM_017012172.1:c.700G>A | XP_016867661.1:p.Asp234Asn | |
| XM_017012173.1:c.901G>A | XP_016867662.1:p.Asp301Asn | |
| XM_024446755.1:c.901G>A | XP_024302523.1:p.Asp301Asn | |
| XM_024446756.1:c.823G>A | XP_024302524.1:p.Asp275Asn | |
| XM_024446757.1:c.724G>A | XP_024302525.1:p.Asp242Asn | |
| XM_024446758.1:c.700G>A | XP_024302526.1:p.Asp234Asn | |
| NM_000883.4:c.931G>A MANE Select | NP_000874.2:p.Asp311Asn | |
| NM_001102605.2:c.901G>A | NP_001096075.1:p.Asp301Asn | |
| NM_001142573.2:c.676G>A | NP_001136045.1:p.Asp226Asn | |
| NM_001142574.2:c.661G>A | NP_001136046.1:p.Asp221Asn | |
| NM_001142575.2:c.601G>A | NP_001136047.1:p.Asp201Asn | |
| NM_001142576.2:c.832G>A | NP_001136048.1:p.Asp278Asn | |
| NM_001304521.2:c.724G>A | NP_001291450.1:p.Asp242Asn | |
| NM_183243.3:c.823G>A | NP_899066.1:p.Asp275Asn |