Linked Data
ClinVar Variation Id:
2725499
ClinVar RCV Id:
RCV003499621
dbSNP Id:
rs1425669718
gnomAD v2:
8-61769010-G-T
gnomAD v4:
8-60856451-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60856451G>T , CM000670.2:g.60856451G>T | GRCh38 |
| NC_000008.10:g.61769010G>T , CM000670.1:g.61769010G>T | GRCh37 |
| NC_000008.9:g.61931564G>T | NCBI36 |
| NG_007009.1:g.182672G>T , LRG_176:g.182672G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.347G>T | ||
| ENST00000695853.1:c.*230G>T | ENSP00000512218.1:n.*230G>T | |
| ENST00000423902.7:c.7171G>T MANE Select | ENSP00000392028.1:p.Ala2391Ser | |
| ENST00000423902.6:c.7171G>T | ENSP00000392028.1:p.Ala2391Ser | |
| ENST00000524602.5:c.1717-5778G>T | ENSP00000437061.1:n.1717-5778G>T | |
| ENST00000529472.1:n.352G>T | ||
| NM_001316690.1:c.1717-5778G>T | NP_001303619.1:n.1717-5778G>T | |
| NM_017780.3:c.7171G>T | NP_060250.2:p.Ala2391Ser | |
| XM_011517553.1:c.7261G>T | XP_011515855.1:p.Ala2421Ser | |
| XM_011517554.1:c.7261G>T | XP_011515856.1:p.Ala2421Ser | |
| XM_011517555.1:c.7258G>T | XP_011515857.1:p.Ala2420Ser | |
| XM_011517556.1:c.7261G>T | XP_011515858.1:p.Ala2421Ser | |
| XM_011517557.1:c.5248G>T | XP_011515859.1:p.Ala1750Ser | |
| XM_011517558.1:c.4798G>T | XP_011515860.1:p.Ala1600Ser | |
| XM_011517559.1:c.4006G>T | XP_011515861.1:p.Ala1336Ser | |
| XM_011517553.2:c.7261G>T | XP_011515855.1:p.Ala2421Ser | |
| XM_011517554.3:c.7261G>T | XP_011515856.1:p.Ala2421Ser | |
| XM_011517555.2:c.7258G>T | XP_011515857.1:p.Ala2420Ser | |
| XM_017013612.1:c.7261G>T | XP_016869101.1:p.Ala2421Ser | |
| XM_017013613.1:c.7168G>T | XP_016869102.1:p.Ala2390Ser | |
| NM_017780.4:c.7171G>T MANE Select | NP_060250.2:p.Ala2391Ser |