Linked Data
ClinVar Variation Id:
364047
dbSNP Id:
rs886063208
gnomAD v2:
8-97157389-G-A
gnomAD v3:
8-96145161-G-A
gnomAD v4:
8-96145161-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145161G>A , CM000670.2:g.96145161G>A | GRCh38 |
| NC_000008.10:g.97157389G>A , CM000670.1:g.97157389G>A | GRCh37 |
| NC_000008.9:g.97226565G>A | NCBI36 |
| NG_008981.1:g.20632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.770C>T MANE Select | ENSP00000287020.4:p.Pro257Leu | |
| ENST00000287020.6:c.770C>T | ENSP00000287020.4:p.Pro257Leu | |
| ENST00000620978.1:c.708C>T | ENSP00000480170.1:p.Ala236= | |
| ENST00000621429.1:c.770C>T | ENSP00000483711.1:p.Pro257Leu | |
| NM_001001557.2:c.770C>T | NP_001001557.1:p.Pro257Leu | |
| XM_011517030.1:c.371C>T | XP_011515332.1:p.Pro124Leu | |
| NM_001001557.3:c.770C>T | NP_001001557.1:p.Pro257Leu | |
| NM_001001557.4:c.770C>T MANE Select | NP_001001557.1:p.Pro257Leu |