Linked Data
ClinVar Variation Id:
2601926
ClinVar RCV Id:
RCV004349944
dbSNP Id:
rs1044754353
gnomAD v3:
1-156530280-G-A
gnomAD v4:
1-156530280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156530280G>A , CM000663.2:g.156530280G>A | GRCh38 |
| NC_000001.10:g.156500072G>A , CM000663.1:g.156500072G>A | GRCh37 |
| NC_000001.9:g.154766696G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361170.7:c.4229C>T MANE Select | ENSP00000354451.2:p.Ala1410Val | |
| ENST00000361170.6:c.4229C>T | ENSP00000354451.2:p.Ala1410Val | |
| ENST00000491900.1:c.4100C>T | ENSP00000436603.1:p.Ala1367Val | |
| NM_178229.4:c.4229C>T | NP_839943.2:p.Ala1410Val | |
| XM_011509195.1:c.4265C>T | XP_011507497.1:p.Ala1422Val | |
| XM_011509196.1:c.4262C>T | XP_011507498.1:p.Ala1421Val | |
| XM_011509197.1:c.4250C>T | XP_011507499.1:p.Ala1417Val | |
| XM_011509198.1:c.4244C>T | XP_011507500.1:p.Ala1415Val | |
| XM_011509199.1:c.3848C>T | XP_011507501.1:p.Ala1283Val | |
| XM_011509200.1:c.2903C>T | XP_011507502.1:p.Ala968Val | |
| XM_011509201.1:c.2741C>T | XP_011507503.1:p.Ala914Val | |
| XR_921746.1:n.4326C>T | ||
| XM_011509198.3:c.4244C>T | XP_011507500.1:p.Ala1415Val | |
| XM_011509200.2:c.2903C>T | XP_011507502.1:p.Ala968Val | |
| XM_011509201.2:c.2741C>T | XP_011507503.1:p.Ala914Val | |
| XM_024453273.1:c.4265C>T | XP_024309041.1:p.Ala1422Val | |
| XM_024453274.1:c.4262C>T | XP_024309042.1:p.Ala1421Val | |
| XM_024453275.1:c.4250C>T | XP_024309043.1:p.Ala1417Val | |
| XM_024453276.1:c.3848C>T | XP_024309044.1:p.Ala1283Val | |
| NM_178229.5:c.4229C>T MANE Select | NP_839943.3:p.Ala1410Val |