Linked Data
ClinVar Variation Id:
351045
dbSNP Id:
rs200974254
ExAC:
5:13753621 A / T
gnomAD v2:
5-13753621-A-T
gnomAD v3:
5-13753512-A-T
gnomAD v4:
5-13753512-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753512A>T , CM000667.2:g.13753512A>T | GRCh38 |
| NC_000005.9:g.13753621A>T , CM000667.1:g.13753621A>T | GRCh37 |
| NC_000005.8:g.13806621A>T | NCBI36 |
| NG_013081.1:g.195969T>A | |
| NG_013081.2:g.195969T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10593T>A MANE Select | ENSP00000265104.4:p.Ser3531= | |
| ENST00000681290.1:c.10548T>A | ENSP00000505288.1:p.Ser3516= | |
| ENST00000265104.4:c.10593T>A | ENSP00000265104.4:p.Ser3531= | |
| NM_001369.2:c.10593T>A | NP_001360.1:p.Ser3531= | |
| XM_005248262.2:c.10548T>A | XP_005248319.1:p.Ser3516= | |
| XM_005248262.3:c.10701T>A | XP_005248319.2:p.Ser3567= | |
| XM_017009177.1:c.10701T>A | XP_016864666.1:p.Ser3567= | |
| XM_017009178.1:c.9606T>A | XP_016864667.1:p.Ser3202= | |
| XM_017009179.2:c.9606T>A | XP_016864668.1:p.Ser3202= | |
| XM_017009180.1:c.10701T>A | XP_016864669.1:p.Ser3567= | |
| XM_017009181.1:c.10701T>A | XP_016864670.1:p.Ser3567= | |
| XM_017009182.1:c.10701T>A | XP_016864671.1:p.Ser3567= | |
| XM_017009185.1:c.5790T>A | XP_016864674.1:p.Ser1930= | |
| XM_017009186.1:c.5343T>A | XP_016864675.1:p.Ser1781= | |
| XM_017009188.1:c.4680T>A | XP_016864677.1:p.Ser1560= | |
| XM_024454388.1:c.9606T>A | XP_024310156.1:p.Ser3202= | |
| XM_024454389.1:c.9195T>A | XP_024310157.1:p.Ser3065= | |
| NM_001369.3:c.10593T>A MANE Select | NP_001360.1:p.Ser3531= |