Linked Data
ClinVar Variation Id:
513088
dbSNP Id:
rs114107985
ExAC:
9:108483965 T / C
gnomAD v2:
9-108483965-T-C
gnomAD v3:
9-105721684-T-C
gnomAD v4:
9-105721684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105721684T>C , CM000671.2:g.105721684T>C | GRCh38 |
| NC_000009.11:g.108483965T>C , CM000671.1:g.108483965T>C | GRCh37 |
| NC_000009.10:g.107523786T>C | NCBI36 |
| NG_032971.1:g.32160T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374692.8:c.417T>C MANE Select | ENSP00000363824.3:p.Asn139= | |
| ENST00000374688.5:c.255T>C | ENSP00000363820.1:p.Asn85= | |
| ENST00000374692.7:c.417T>C | ENSP00000363824.3:p.Asn139= | |
| ENST00000435034.5:c.227T>C | ||
| NM_018112.2:c.417T>C | NP_060582.1:p.Asn139= | |
| XM_005252075.2:c.255T>C | XP_005252132.1:p.Asn85= | |
| XM_005252076.1:c.417T>C | XP_005252133.1:p.Asn139= | |
| XM_005252077.2:c.417T>C | XP_005252134.1:p.Asn139= | |
| XM_005252078.2:c.417T>C | XP_005252135.1:p.Asn139= | |
| XM_011518829.1:c.417T>C | XP_011517131.1:p.Asn139= | |
| XM_011518830.1:c.417T>C | XP_011517132.1:p.Asn139= | |
| XM_011518831.1:c.417T>C | XP_011517133.1:p.Asn139= | |
| XM_011518832.1:c.269+15931T>C | XP_011517134.1:n.269+15931T>C | |
| XM_011518833.1:c.69T>C | XP_011517135.1:p.Asn23= | |
| XM_005252076.3:c.417T>C | XP_005252133.1:p.Asn139= | |
| XM_005252077.3:c.417T>C | XP_005252134.1:p.Asn139= | |
| XM_011518831.2:c.417T>C | XP_011517133.1:p.Asn139= | |
| XM_011518832.3:c.269+15931T>C | XP_011517134.1:n.269+15931T>C | |
| XM_011518833.3:c.69T>C | XP_011517135.1:p.Asn23= | |
| XR_001746343.1:n.534T>C | ||
| NM_018112.3:c.417T>C MANE Select | NP_060582.1:p.Asn139= |