Linked Data
ClinVar Variation Id:
430234
dbSNP Id:
rs1131691846
gnomAD v2:
16-31202146-C-T
gnomAD v3:
16-31190825-C-T
gnomAD v4:
16-31190825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31190825C>T , CM000678.2:g.31190825C>T | GRCh38 |
| NC_000016.9:g.31202146C>T , CM000678.1:g.31202146C>T | GRCh37 |
| NC_000016.8:g.31109647C>T | NCBI36 |
| NG_012889.2:g.15694C>T , LRG_655:g.15694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1376C>T MANE Select | ENSP00000254108.8:p.Pro459Leu | |
| ENST00000254108.11:c.1376C>T | ENSP00000254108.7:p.Pro459Leu | |
| ENST00000380244.7:c.1373C>T | ENSP00000369594.3:p.Pro458Leu | |
| ENST00000474990.5:n.670C>T | ||
| ENST00000483853.1:n.453C>T | ||
| ENST00000487509.6:n.4551C>T | ||
| ENST00000566605.5:c.*549C>T | ENSP00000455073.1:n.*549C>T | |
| ENST00000568685.1:c.1379C>T | ENSP00000455282.1:p.Pro460Leu | |
| ENST00000569760.5:n.267C>T | ||
| NM_001170634.1:c.1373C>T | NP_001164105.1:p.Pro458Leu | |
| NM_001170937.1:c.1364C>T | NP_001164408.1:p.Pro455Leu | |
| NM_004960.3:c.1376C>T , LRG_655t1:c.1376C>T | NP_004951.1:p.Pro459Leu | |
| NR_028388.2:n.1446C>T | ||
| XM_005255233.3:c.761C>T | XP_005255290.1:p.Pro254Leu | |
| XM_011545781.1:c.1370C>T | XP_011544083.1:p.Pro457Leu | |
| XM_011545782.1:c.761C>T | XP_011544084.1:p.Pro254Leu | |
| XM_005255233.5:c.761C>T | XP_005255290.1:p.Pro254Leu | |
| XM_011545782.2:c.761C>T | XP_011544084.1:p.Pro254Leu | |
| XM_024450221.1:c.1367C>T | XP_024305989.1:p.Pro456Leu | |
| NM_004960.4:c.1376C>T MANE Select | NP_004951.1:p.Pro459Leu |