Linked Data
ClinVar Variation Id:
3222157
ClinVar RCV Id:
RCV004513575
dbSNP Id:
rs1441783757
gnomAD v2:
14-65543231-G-A
gnomAD v4:
14-65076513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076513G>A , CM000676.2:g.65076513G>A | GRCh38 |
| NC_000014.8:g.65543231G>A , CM000676.1:g.65543231G>A | GRCh37 |
| NC_000014.7:g.64612984G>A | NCBI36 |
| NG_029830.1:g.30997C>T , LRG_530:g.30997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.227C>T | ENSP00000452206.2:p.Pro76Leu | |
| ENST00000556979.6:c.*899C>T | ENSP00000452378.1:n.*899C>T | |
| ENST00000358664.9:c.446C>T MANE Select | ENSP00000351490.4:p.Pro149Leu | |
| ENST00000651648.1:c.145-6144C>T | ENSP00000498863.1:n.145-6144C>T | |
| ENST00000284165.10:c.*1290C>T | ENSP00000284165.6:n.*1290C>T | |
| ENST00000341653.6:c.171+17195C>T | ENSP00000342482.2:n.171+17195C>T | |
| ENST00000358402.8:c.419C>T | ENSP00000351175.4:p.Pro140Leu | |
| ENST00000358664.8:c.446C>T | ENSP00000351490.4:p.Pro149Leu | |
| ENST00000394606.6:c.*219C>T | ENSP00000378104.2:n.*219C>T | |
| ENST00000553928.5:c.*235C>T | ENSP00000451907.1:n.*235C>T | |
| ENST00000555419.5:c.338C>T | ENSP00000452405.1:p.Pro113Leu | |
| ENST00000555932.5:c.187C>T | ENSP00000450763.1:p.Pro63Ser | |
| ENST00000557277.5:c.257C>T | ENSP00000450955.1:p.Pro86Leu | |
| ENST00000618858.4:c.*235C>T | ENSP00000480127.1:n.*235C>T | |
| NM_001271069.1:c.144+17195C>T | NP_001257998.1:n.144+17195C>T | |
| NM_002382.4:c.446C>T | NP_002373.3:p.Pro149Leu | |
| NM_145112.2:c.419C>T | NP_660087.1:p.Pro140Leu | |
| NM_145113.2:c.*235C>T | NP_660088.1:n.*235C>T | |
| NM_197957.3:c.171+17195C>T | NP_932061.1:n.171+17195C>T | |
| NR_073137.1:n.570C>T | ||
| XR_429315.2:n.733C>T | ||
| NM_001320415.1:c.257C>T | NP_001307344.1:p.Pro86Leu | |
| XM_017021312.2:c.257C>T | XP_016876801.1:p.Pro86Leu | |
| XM_017021313.1:c.257C>T | XP_016876802.1:p.Pro86Leu | |
| XR_001750326.2:n.791C>T | ||
| XR_001750327.2:n.710C>T | ||
| XR_002957553.1:n.1224C>T | ||
| XR_943450.3:n.814C>T | ||
| XR_943451.3:n.830C>T | ||
| XR_943452.3:n.775C>T | ||
| NM_001320415.2:c.257C>T | NP_001307344.1:p.Pro86Leu | |
| NM_002382.5:c.446C>T MANE Select | NP_002373.3:p.Pro149Leu | |
| NM_145112.3:c.419C>T | NP_660087.1:p.Pro140Leu | |
| NM_145113.3:c.*235C>T | NP_660088.1:n.*235C>T | |
| NM_001271069.2:c.144+17195C>T | NP_001257998.1:n.144+17195C>T | |
| NM_197957.4:c.171+17195C>T | NP_932061.1:n.171+17195C>T |