Linked Data
ClinVar Variation Id:
8433
dbSNP Id:
rs104894621
PubMed:
PMID:1523566
PMID:7728152
PMID:8275092
PMID:9004143
PMID:9543325
PMID:9585367
PMID:10211478
PMID:10369870
PMID:11523566
PMID:11835375
PMID:12439896
PMID:18592125
PMID:18698610
PMID:21840889
PMID:23224996
PMID:23781966
PMID:23891399
PMID:24534835
PMID:24646194
PMID:24668782
PMID:24726093
PMID:26076881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15239575G>A , CM000679.2:g.15239575G>A | GRCh38 |
| NC_000017.10:g.15142892G>A , CM000679.1:g.15142892G>A | GRCh37 |
| NC_000017.9:g.15083617G>A | NCBI36 |
| NG_007949.1:g.30753C>T , LRG_263:g.30753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.215C>T MANE Select | ENSP00000308937.3:p.Ser72Leu | |
| ENST00000395936.7:c.215C>T | ENSP00000379268.1:p.Ser72Leu | |
| ENST00000395938.7:c.204C>T | ENSP00000379269.3:p.Val68= | |
| ENST00000426385.4:c.215C>T | ENSP00000409824.3:p.Ser72Leu | |
| ENST00000494511.7:c.11C>T | ENSP00000462782.2:p.Ser4Leu | |
| ENST00000580584.3:c.11C>T | ENSP00000464468.3:p.Ser4Leu | |
| ENST00000612492.5:c.215C>T | ENSP00000484631.1:p.Ser72Leu | |
| ENST00000643451.2:c.215C>T | ENSP00000494628.1:p.Ser72Leu | |
| ENST00000644020.1:c.215C>T | ENSP00000496522.1:p.Ser72Leu | |
| ENST00000646419.2:c.215C>T | ENSP00000494871.1:p.Ser72Leu | |
| ENST00000674651.1:c.215C>T | ENSP00000501727.1:p.Ser72Leu | |
| ENST00000674673.1:c.215C>T | ENSP00000501804.1:p.Ser72Leu | |
| ENST00000674707.1:c.11C>T | ENSP00000502250.1:p.Ser4Leu | |
| ENST00000674868.1:c.215C>T | ENSP00000502835.1:p.Ser72Leu | |
| ENST00000674871.1:n.231C>T | ||
| ENST00000674947.1:c.204C>T | ENSP00000501580.1:p.Val68= | |
| ENST00000675197.1:n.195C>T | ||
| ENST00000675350.1:c.215C>T | ENSP00000501557.1:p.Ser72Leu | |
| ENST00000675551.1:c.215C>T | ENSP00000501945.1:p.Ser72Leu | |
| ENST00000675808.1:c.215C>T | ENSP00000502310.1:p.Ser72Leu | |
| ENST00000675819.1:c.215C>T | ENSP00000502018.1:p.Ser72Leu | |
| ENST00000675854.1:c.11C>T | ENSP00000502324.1:p.Ser4Leu | |
| ENST00000675950.1:c.215C>T | ENSP00000501546.1:p.Ser72Leu | |
| ENST00000676161.1:c.179-8495C>T | ENSP00000501766.1:n.179-8495C>T | |
| ENST00000676221.1:c.215C>T | ENSP00000502601.1:p.Ser72Leu | |
| ENST00000676329.1:c.317C>T | ENSP00000501698.1:p.Ser106Leu | |
| ENST00000312280.7:c.215C>T | ENSP00000308937.3:p.Ser72Leu | |
| ENST00000395936.5:c.215C>T | ENSP00000379268.1:p.Ser72Leu | |
| ENST00000395938.6:c.215C>T | ENSP00000379269.2:p.Ser72Leu | |
| ENST00000426385.3:c.215C>T | ENSP00000409824.3:p.Ser72Leu | |
| ENST00000494511.5:c.36C>T | ENSP00000462782.1:p.Val12= | |
| ENST00000580584.1:c.36C>T | ENSP00000464468.1:p.Val12= | |
| ENST00000612492.4:c.215C>T | ENSP00000484631.1:p.Ser72Leu | |
| NM_000304.3:c.215C>T | NP_000295.1:p.Ser72Leu | |
| NM_001281455.1:c.215C>T | NP_001268384.1:p.Ser72Leu | |
| NM_001281456.1:c.215C>T | NP_001268385.1:p.Ser72Leu | |
| NM_153321.2:c.215C>T | NP_696996.1:p.Ser72Leu | |
| NM_153322.2:c.215C>T | NP_696997.1:p.Ser72Leu | |
| NR_104017.1:n.341C>T | ||
| NR_104018.1:n.241C>T | ||
| XM_011523943.1:c.215C>T | XP_011522245.1:p.Ser72Leu | |
| NM_001330143.1:c.215C>T | NP_001317072.1:p.Ser72Leu | |
| XM_024450806.1:c.215C>T | XP_024306574.1:p.Ser72Leu | |
| NM_000304.4:c.215C>T MANE Select | NP_000295.1:p.Ser72Leu | |
| NM_001281456.2:c.215C>T | NP_001268385.1:p.Ser72Leu | |
| NM_001330143.2:c.215C>T | NP_001317072.1:p.Ser72Leu | |
| NM_153321.3:c.215C>T | NP_696996.1:p.Ser72Leu | |
| NM_153322.3:c.215C>T | NP_696997.1:p.Ser72Leu | |
| NR_104017.2:n.310C>T | ||
| NR_104018.2:n.210C>T | ||
| NM_001281455.2:c.215C>T | NP_001268384.1:p.Ser72Leu |