Linked Data
ClinVar Variation Id:
67027
ClinVar RCV Id:
RCV000057579
RCV000182185
RCV000586616
RCV001104824
RCV001104825
RCV001104826
RCV001104827
RCV001226314
RCV001841663
dbSNP Id:
rs12720449
gnomAD v2:
11-2610034-C-T
gnomAD v3:
11-2588804-C-T
gnomAD v4:
11-2588804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588804C>T , CM000673.2:g.2588804C>T | GRCh38 |
| NC_000011.9:g.2610034C>T , CM000673.1:g.2610034C>T | GRCh37 |
| NC_000011.8:g.2566610C>T | NCBI36 |
| NG_008935.1:g.148814C>T , LRG_287:g.148814C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.986C>T | ENSP00000434560.2:p.Pro329Leu | |
| ENST00000646564.2:c.803C>T | ENSP00000495806.2:p.Pro268Leu | |
| ENST00000155840.12:c.1343C>T MANE Select | ENSP00000155840.2:p.Pro448Leu | |
| ENST00000335475.6:c.962C>T | ENSP00000334497.5:p.Pro321Leu | |
| ENST00000646564.1:c.449C>T | ENSP00000495806.1:p.Pro150Leu | |
| ENST00000155840.9:c.1343C>T | ENSP00000155840.2:p.Pro448Leu | |
| ENST00000335475.5:c.962C>T | ENSP00000334497.5:p.Pro321Leu | |
| NM_000218.2:c.1343C>T , LRG_287t1:c.1343C>T | NP_000209.2:p.Pro448Leu | |
| NM_181798.1:c.962C>T , LRG_287t2:c.962C>T | NP_861463.1:p.Pro321Leu | |
| NM_000218.3:c.1343C>T MANE Select | NP_000209.2:p.Pro448Leu |