Linked Data
ClinVar Variation Id:
143057
dbSNP Id:
rs587777599
gnomAD v2:
9-116050463-C-T
gnomAD v4:
9-113288183-C-T
PubMed:
PMID:24419317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113288183C>T , CM000671.2:g.113288183C>T | GRCh38 |
| NC_000009.11:g.116050463C>T , CM000671.1:g.116050463C>T | GRCh37 |
| NC_000009.10:g.115090284C>T | NCBI36 |
| NG_034225.1:g.17550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374198.5:c.941C>T MANE Select | ENSP00000363313.4:p.Pro314Leu | |
| ENST00000374199.9:c.944C>T | ENSP00000363315.4:p.Pro315Leu | |
| ENST00000374198.4:c.944C>T | ENSP00000363313.3:p.Pro315Leu | |
| ENST00000374199.8:c.941C>T | ENSP00000363315.3:p.Pro314Leu | |
| NM_001244926.1:c.941C>T | NP_001231855.1:p.Pro314Leu | |
| NM_004697.4:c.944C>T | NP_004688.2:p.Pro315Leu | |
| XM_005252300.2:c.215C>T | XP_005252357.1:p.Pro72Leu | |
| XM_011519181.1:c.944C>T | XP_011517483.1:p.Pro315Leu | |
| NM_001322266.1:c.215C>T | NP_001309195.1:p.Pro72Leu | |
| NM_001322267.1:c.215C>T | NP_001309196.1:p.Pro72Leu | |
| NR_136265.1:n.1054C>T | ||
| NR_136266.1:n.1051C>T | ||
| NM_001244926.2:c.941C>T MANE Select | NP_001231855.1:p.Pro314Leu | |
| NM_001322266.2:c.215C>T | NP_001309195.1:p.Pro72Leu | |
| NM_001322267.2:c.215C>T | NP_001309196.1:p.Pro72Leu | |
| NM_004697.5:c.944C>T | NP_004688.2:p.Pro315Leu | |
| NR_136265.2:n.1030C>T | ||
| NR_136266.2:n.1027C>T |