Linked Data
ClinVar Variation Id:
357811
dbSNP Id:
rs192047082
ExAC:
6:70990717 G / A
gnomAD v2:
6-70990717-G-A
gnomAD v3:
6-70281014-G-A
gnomAD v4:
6-70281014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70281014G>A , CM000668.2:g.70281014G>A | GRCh38 |
| NC_000006.11:g.70990717G>A , CM000668.1:g.70990717G>A | GRCh37 |
| NC_000006.10:g.71047438G>A | NCBI36 |
| NG_011654.1:g.27070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683980.2:c.173C>T | ENSP00000506990.1:p.Pro58Leu | |
| ENST00000683758.1:c.173C>T | ENSP00000508147.1:p.Pro58Leu | |
| ENST00000683980.1:c.173C>T | ENSP00000506990.1:p.Pro58Leu | |
| ENST00000684176.1:n.244C>T | ||
| ENST00000320755.12:c.173C>T | ENSP00000315252.7:p.Pro58Leu | |
| ENST00000357250.11:c.902C>T MANE Select | ENSP00000349790.6:p.Pro301Leu | |
| ENST00000644493.1:c.173C>T | ENSP00000495638.1:p.Pro58Leu | |
| ENST00000320755.11:c.173C>T | ENSP00000315252.7:p.Pro58Leu | |
| ENST00000357250.10:c.902C>T | ENSP00000349790.6:p.Pro301Leu | |
| ENST00000370496.3:c.902C>T | ENSP00000359527.3:p.Pro301Leu | |
| NM_001851.4:c.902C>T | NP_001842.3:p.Pro301Leu | |
| NM_078485.3:c.173C>T | NP_511040.2:p.Pro58Leu | |
| XM_011535429.1:c.902C>T | XP_011533731.1:p.Pro301Leu | |
| XM_011535430.1:c.173C>T | XP_011533732.1:p.Pro58Leu | |
| XM_011535429.3:c.902C>T | XP_011533731.1:p.Pro301Leu | |
| XM_011535430.3:c.173C>T | XP_011533732.1:p.Pro58Leu | |
| XM_017010246.2:c.353C>T | XP_016865735.1:p.Pro118Leu | |
| NM_001377289.1:c.173C>T | NP_001364218.1:p.Pro58Leu | |
| NM_001377290.1:c.173C>T | NP_001364219.1:p.Pro58Leu | |
| NM_001377291.1:c.902C>T | NP_001364220.1:p.Pro301Leu | |
| NM_001851.5:c.902C>T | NP_001842.3:p.Pro301Leu | |
| NM_078485.4:c.173C>T | NP_511040.2:p.Pro58Leu | |
| NR_165185.1:n.318C>T | ||
| NM_001851.6:c.902C>T MANE Select | NP_001842.3:p.Pro301Leu |