Linked Data
ClinVar Variation Id:
1068475
ClinVar RCV Id:
RCV001380048
dbSNP Id:
rs1157198543
gnomAD v2:
5-131729437-T-C
gnomAD v3:
5-132393745-T-C
gnomAD v4:
5-132393745-T-C
PubMed:
PMID:20574985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393745T>C , CM000667.2:g.132393745T>C | GRCh38 |
| NC_000005.9:g.131729437T>C , CM000667.1:g.131729437T>C | GRCh37 |
| NC_000005.8:g.131757336T>C | NCBI36 |
| NG_008982.1:g.29037T>C | |
| NG_008982.2:g.29042T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-440T>C | ENSP00000388838.2:n.1292-440T>C | |
| ENST00000435065.7:c.1592T>C | ENSP00000402760.2:p.Leu531Ser | |
| ENST00000448810.6:c.*372T>C | ENSP00000401860.2:n.*372T>C | |
| ENST00000685543.1:n.1661T>C | ||
| ENST00000686757.1:c.*684T>C | ENSP00000510721.1:n.*684T>C | |
| ENST00000686868.1:n.512T>C | ||
| ENST00000687740.1:n.4205T>C | ||
| ENST00000688151.1:n.2830T>C | ||
| ENST00000689271.1:c.1367T>C | ENSP00000510797.1:p.Leu456Ser | |
| ENST00000690900.1:c.*684T>C | ENSP00000510703.1:n.*684T>C | |
| ENST00000692212.1:n.4660T>C | ||
| ENST00000692355.1:c.773T>C | ||
| ENST00000692413.1:c.1502T>C | ENSP00000509374.1:p.Leu501Ser | |
| ENST00000692825.1:c.1588T>C | ENSP00000509447.1:n.1588T>C | |
| ENST00000693308.1:c.1568T>C | ENSP00000509770.1:p.Leu523Ser | |
| ENST00000693763.1:n.2680T>C | ||
| ENST00000245407.8:c.1520T>C MANE Select | ENSP00000245407.3:p.Leu507Ser | |
| ENST00000245407.7:c.1520T>C | ENSP00000245407.3:p.Leu507Ser | |
| ENST00000435065.6:c.1592T>C | ENSP00000402760.2:p.Leu531Ser | |
| ENST00000447841.5:c.364T>C | ||
| ENST00000448810.5:c.782T>C | ||
| ENST00000461013.5:n.8942T>C | ||
| ENST00000475308.1:n.2198T>C | ||
| NM_001308122.1:c.1592T>C | NP_001295051.1:p.Leu531Ser | |
| NM_003060.3:c.1520T>C | NP_003051.1:p.Leu507Ser | |
| XM_011543590.1:c.902T>C | XP_011541892.1:p.Leu301Ser | |
| XR_948290.1:n.1646T>C | ||
| XM_011543590.2:c.902T>C | XP_011541892.1:p.Leu301Ser | |
| XM_017009778.2:c.992T>C | XP_016865267.1:p.Leu331Ser | |
| XR_001742215.1:n.1775T>C | ||
| XR_001742216.1:n.1794T>C | ||
| XR_427718.2:n.1880T>C | ||
| XR_948290.2:n.1646T>C | ||
| XR_948291.2:n.1874T>C | ||
| NM_003060.4:c.1520T>C MANE Select | NP_003051.1:p.Leu507Ser | |
| NM_001308122.2:c.1592T>C | NP_001295051.1:p.Leu531Ser |