Linked Data
ClinVar Variation Id:
253091
dbSNP Id:
rs74830677
ExAC:
12:125284671 G / A
gnomAD v2:
12-125284671-G-A
gnomAD v3:
12-124800125-G-A
gnomAD v4:
12-124800125-G-A
PubMed:
PMID:26965621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124800125G>A , CM000674.2:g.124800125G>A | GRCh38 |
| NC_000012.11:g.125284671G>A , CM000674.1:g.125284671G>A | GRCh37 |
| NC_000012.10:g.123850624G>A | NCBI36 |
| NG_028199.1:g.68849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261693.11:c.1127C>T MANE Select | ENSP00000261693.6:p.Pro376Leu | |
| ENST00000679605.1:c.*128+7636C>T | ENSP00000505370.1:n.*128+7636C>T | |
| ENST00000679955.1:n.2851C>T | ||
| ENST00000680556.1:c.1004+7641C>T | ENSP00000505757.1:n.1004+7641C>T | |
| ENST00000680596.1:c.1103C>T | ENSP00000505605.1:p.Pro368Leu | |
| ENST00000680926.1:c.*75C>T | ENSP00000505571.1:n.*75C>T | |
| ENST00000680982.1:c.*1110C>T | ENSP00000506281.1:n.*1110C>T | |
| ENST00000681117.1:c.*246C>T | ENSP00000506693.1:n.*246C>T | |
| ENST00000681499.1:n.1000C>T | ||
| ENST00000681555.1:n.817C>T | ||
| ENST00000681686.1:c.1127C>T | ENSP00000505406.1:p.Pro376Leu | |
| ENST00000261693.10:c.1127C>T | ENSP00000261693.6:p.Pro376Leu | |
| ENST00000339570.9:c.1127C>T | ENSP00000343795.4:p.Pro376Leu | |
| ENST00000415380.6:c.1127C>T | ENSP00000414979.2:p.Pro376Leu | |
| ENST00000535005.5:n.1442C>T | ||
| ENST00000538291.5:n.1270C>T | ||
| ENST00000544327.1:c.965C>T | ENSP00000444851.1:p.Pro322Leu | |
| ENST00000546215.5:c.1127C>T | ENSP00000442862.1:p.Pro376Leu | |
| NM_001082959.1:c.1127C>T | NP_001076428.1:p.Pro376Leu | |
| NM_005505.4:c.1127C>T | NP_005496.4:p.Pro376Leu | |
| NM_005505.5:c.1127C>T MANE Select | NP_005496.4:p.Pro376Leu | |
| NM_001082959.2:c.1127C>T | NP_001076428.1:p.Pro376Leu | |
| NM_001367981.1:c.1127C>T | NP_001354910.1:p.Pro376Leu | |
| NM_001367982.1:c.1004C>T | NP_001354911.1:p.Pro335Leu | |
| NM_001367983.1:c.1127C>T | NP_001354912.1:p.Pro376Leu | |
| NM_001367984.1:c.1127C>T | NP_001354913.1:p.Pro376Leu | |
| NM_001367985.1:c.1103C>T | NP_001354914.1:p.Pro368Leu | |
| NM_001367986.1:c.1127C>T | NP_001354915.1:p.Pro376Leu | |
| NM_001367987.1:c.1004+7641C>T | NP_001354916.1:n.1004+7641C>T | |
| NM_001367988.1:c.727-4857C>T | NP_001354917.1:n.727-4857C>T | |
| NM_001367989.1:c.1127C>T | NP_001354918.1:p.Pro376Leu | |
| NR_160416.1:n.1271C>T | ||
| NR_160417.1:n.1271C>T | ||
| NR_160418.1:n.1037+7636C>T | ||
| NR_160419.1:n.1271C>T | ||
| NR_160420.1:n.1155C>T | ||
| NR_160421.1:n.1153+7636C>T | ||
| NR_160422.1:n.1155C>T | ||
| NR_160423.1:n.1154-4857C>T | ||
| NR_160424.1:n.1266C>T |