Linked Data
ClinVar Variation Id:
972290
ClinVar RCV Id:
RCV001248283
dbSNP Id:
rs1008341193
gnomAD v2:
3-49459622-G-A
gnomAD v3:
3-49422189-G-A
gnomAD v4:
3-49422189-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422189G>A , CM000665.2:g.49422189G>A | GRCh38 |
| NC_000003.11:g.49459622G>A , CM000665.1:g.49459622G>A | GRCh37 |
| NC_000003.10:g.49434626G>A | NCBI36 |
| NG_015986.1:g.5490C>T , LRG_537:g.5490C>T | |
| NG_033046.1:g.12136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.173C>T MANE Select | ENSP00000273588.3:p.Pro58Leu | |
| ENST00000395338.7:c.173C>T | ENSP00000378747.2:p.Pro58Leu | |
| ENST00000399379.7:c.60+172C>T | ENSP00000399943.2:n.60+172C>T | |
| ENST00000427987.6:c.29C>T | ENSP00000403821.2:p.Pro10Leu | |
| ENST00000430521.2:c.91-140C>T | ENSP00000388068.2:n.91-140C>T | |
| ENST00000462048.2:c.-101-140C>T | ENSP00000490465.1:n.-101-140C>T | |
| ENST00000465925.6:n.192C>T | ||
| ENST00000473163.2:n.275C>T | ||
| ENST00000476127.6:n.50C>T | ||
| ENST00000476226.6:n.172C>T | ||
| ENST00000478594.6:n.178C>T | ||
| ENST00000480957.6:n.191C>T | ||
| ENST00000485108.6:n.303C>T | ||
| ENST00000487589.6:n.86C>T | ||
| ENST00000491800.3:n.284C>T | ||
| ENST00000493046.6:n.270C>T | ||
| ENST00000538581.6:c.29C>T | ENSP00000443200.2:p.Pro10Leu | |
| ENST00000635772.1:n.177C>T | ||
| ENST00000635808.1:c.173C>T | ENSP00000489620.1:p.Pro58Leu | |
| ENST00000635889.1:n.182C>T | ||
| ENST00000635936.1:n.165C>T | ||
| ENST00000636023.1:c.173C>T | ENSP00000489969.1:p.Pro58Leu | |
| ENST00000636070.1:c.91-140C>T | ENSP00000490160.1:n.91-140C>T | |
| ENST00000636148.1:n.243C>T | ||
| ENST00000636166.1:c.496-617C>T | ENSP00000490106.1:n.496-617C>T | |
| ENST00000636199.1:c.173C>T | ENSP00000490871.1:p.Pro58Leu | |
| ENST00000636204.1:n.1455C>T | ||
| ENST00000636461.1:c.3285C>T | ||
| ENST00000636522.1:c.90+172C>T | ENSP00000489758.1:n.90+172C>T | |
| ENST00000636587.1:n.405C>T | ||
| ENST00000636597.1:c.173C>T | ENSP00000490251.1:p.Pro58Leu | |
| ENST00000636725.1:n.163C>T | ||
| ENST00000636803.1:n.163C>T | ||
| ENST00000636865.1:c.29C>T | ENSP00000490601.1:p.Pro10Leu | |
| ENST00000636871.1:n.116C>T | ||
| ENST00000636978.1:n.177C>T | ||
| ENST00000636991.1:n.196C>T | ||
| ENST00000637088.1:n.3728C>T | ||
| ENST00000637114.1:n.165C>T | ||
| ENST00000637268.1:n.178C>T | ||
| ENST00000637291.1:n.181C>T | ||
| ENST00000637442.1:n.1668C>T | ||
| ENST00000637457.1:n.200C>T | ||
| ENST00000637682.1:c.173C>T | ENSP00000489856.1:p.Pro58Leu | |
| ENST00000637684.1:n.275C>T | ||
| ENST00000637821.1:c.91-140C>T | ENSP00000490482.1:n.91-140C>T | |
| ENST00000637914.1:n.192C>T | ||
| ENST00000637982.1:n.165C>T | ||
| ENST00000637994.1:n.183C>T | ||
| ENST00000638014.1:c.2954C>T | ||
| ENST00000638063.1:c.173C>T | ENSP00000489760.1:p.Pro58Leu | |
| ENST00000638079.1:c.*689C>T | ENSP00000490120.1:n.*689C>T | |
| ENST00000638092.1:n.163C>T | ||
| ENST00000638115.1:c.*1934C>T | ENSP00000490296.1:n.*1934C>T | |
| ENST00000273588.7:c.173C>T | ENSP00000273588.3:p.Pro58Leu | |
| ENST00000395338.6:c.173C>T | ENSP00000378747.2:p.Pro58Leu | |
| ENST00000399379.6:c.91-140C>T | ENSP00000399943.1:n.91-140C>T | |
| ENST00000427987.5:c.165C>T | ||
| ENST00000430521.1:c.90+172C>T | ENSP00000388068.1:n.90+172C>T | |
| ENST00000458307.6:c.173C>T | ENSP00000415619.2:p.Pro58Leu | |
| ENST00000462048.1:n.248-140C>T | ||
| ENST00000476226.5:n.238C>T | ||
| ENST00000478594.5:n.167C>T | ||
| ENST00000480957.5:n.181C>T | ||
| ENST00000485108.5:n.167C>T | ||
| ENST00000487589.5:n.275C>T | ||
| ENST00000493046.5:n.92-140C>T | ||
| ENST00000495436.5:n.263C>T | ||
| ENST00000498571.1:n.171C>T | ||
| ENST00000538581.5:c.90+172C>T | ENSP00000443200.1:n.90+172C>T | |
| NM_000481.3:c.173C>T , LRG_537t1:c.173C>T | NP_000472.2:p.Pro58Leu | |
| NM_001164710.1:c.173C>T | NP_001158182.1:p.Pro58Leu | |
| NM_001164711.1:c.90+172C>T | NP_001158183.1:n.90+172C>T | |
| NM_001164712.1:c.173C>T | NP_001158184.1:p.Pro58Leu | |
| NR_028435.1:n.387C>T | ||
| NM_000481.4:c.173C>T MANE Select | NP_000472.2:p.Pro58Leu | |
| NM_001164710.2:c.173C>T | NP_001158182.1:p.Pro58Leu | |
| NM_001164711.2:c.90+172C>T | NP_001158183.1:n.90+172C>T | |
| NM_001164712.2:c.173C>T | NP_001158184.1:p.Pro58Leu | |
| NR_028435.2:n.182C>T |