Linked Data
dbSNP Id:
rs762167606
ExAC:
14:31358859 T / C
gnomAD v2:
14-31358859-T-C
gnomAD v3:
14-30889653-T-C
gnomAD v4:
14-30889653-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889653T>C , CM000676.2:g.30889653T>C | GRCh38 |
| NC_000014.8:g.31358859T>C , CM000676.1:g.31358859T>C | GRCh37 |
| NC_000014.7:g.30428610T>C | NCBI36 |
| NG_008211.2:g.20119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.1710T>C | ENSP00000216361.5:p.Pro570= | |
| ENST00000396618.9:c.1515T>C MANE Select | ENSP00000379862.3:p.Pro505= | |
| ENST00000555117.2:c.1534+3341T>C | ENSP00000493569.1:n.1534+3341T>C | |
| ENST00000643575.1:c.1515T>C | ENSP00000494838.1:p.Pro505= | |
| ENST00000643697.1:n.1817T>C | ||
| ENST00000644874.2:c.1515T>C | ENSP00000496360.1:p.Pro505= | |
| ENST00000216361.8:c.1515T>C | ENSP00000216361.4:p.Pro505= | |
| ENST00000396618.7:c.1515T>C | ENSP00000379862.3:p.Pro505= | |
| ENST00000460581.6:c.1179T>C | ENSP00000451713.1:p.Pro393= | |
| ENST00000468826.2:c.1166T>C | ||
| ENST00000475087.5:c.1477+3341T>C | ENSP00000451528.1:n.1477+3341T>C | |
| NM_001135058.1:c.1515T>C | NP_001128530.1:p.Pro505= | |
| NM_004086.2:c.1515T>C | NP_004077.1:p.Pro505= | |
| NR_038356.1:n.156A>G | ||
| XM_011536539.1:c.1515T>C | XP_011534841.1:p.Pro505= | |
| NM_001347720.1:c.1710T>C | NP_001334649.1:p.Pro570= | |
| XM_017021071.1:c.1710T>C | XP_016876560.1:p.Pro570= | |
| XM_024449506.1:c.1572T>C | XP_024305274.1:p.Pro524= | |
| NM_004086.3:c.1515T>C MANE Select | NP_004077.1:p.Pro505= | |
| NM_001135058.2:c.1515T>C | NP_001128530.1:p.Pro505= | |
| NM_001347720.2:c.1710T>C | NP_001334649.1:p.Pro570= |