Linked Data
ClinVar Variation Id:
291500
dbSNP Id:
rs199952288
ExAC:
1:103354445 G / A
gnomAD v2:
1-103354445-G-A
gnomAD v3:
1-102888889-G-A
gnomAD v4:
1-102888889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102888889G>A , CM000663.2:g.102888889G>A | GRCh38 |
| NC_000001.10:g.103354445G>A , CM000663.1:g.103354445G>A | GRCh37 |
| NC_000001.9:g.103127033G>A | NCBI36 |
| NG_008033.1:g.224608C>T | |
| NG_008033.2:g.224608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4495C>T MANE Select | ENSP00000359114.3:p.Pro1499Ser | |
| ENST00000353414.8:c.4378C>T | ENSP00000302551.6:p.Pro1460Ser | |
| ENST00000358392.6:c.4531C>T | ENSP00000351163.2:p.Pro1511Ser | |
| ENST00000370096.7:c.4495C>T | ENSP00000359114.3:p.Pro1499Ser | |
| ENST00000512756.5:c.4147C>T | ENSP00000426533.1:p.Pro1383Ser | |
| ENST00000635193.1:c.3829C>T | ||
| NM_001190709.1:c.4378C>T | NP_001177638.1:p.Pro1460Ser | |
| NM_001854.3:c.4495C>T | NP_001845.3:p.Pro1499Ser | |
| NM_080629.2:c.4531C>T | NP_542196.2:p.Pro1511Ser | |
| NM_080630.3:c.4147C>T | NP_542197.3:p.Pro1383Ser | |
| XM_011540720.1:c.2728C>T | XP_011539022.1:p.Pro910Ser | |
| XM_011540721.1:c.2083C>T | XP_011539023.1:p.Pro695Ser | |
| NR_134980.1:n.4829C>T | ||
| XM_017000334.1:c.4648C>T | XP_016855823.1:p.Pro1550Ser | |
| XM_017000335.1:c.4642C>T | XP_016855824.1:p.Pro1548Ser | |
| XM_017000337.1:c.3046C>T | XP_016855826.1:p.Pro1016Ser | |
| NM_001854.4:c.4495C>T MANE Select | NP_001845.3:p.Pro1499Ser | |
| NM_080630.4:c.4147C>T | NP_542197.3:p.Pro1383Ser | |
| NR_134980.2:n.4855C>T | ||
| NM_001190709.2:c.4378C>T | NP_001177638.1:p.Pro1460Ser | |
| NM_080629.3:c.4531C>T | NP_542196.2:p.Pro1511Ser |