Linked Data
ClinVar Variation Id:
743607
ClinVar RCV Id:
RCV000919976
dbSNP Id:
rs201619073
ExAC:
14:35182077 T / C
gnomAD v2:
14-35182077-T-C
gnomAD v3:
14-34712871-T-C
gnomAD v4:
14-34712871-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34712871T>C , CM000676.2:g.34712871T>C | GRCh38 |
| NC_000014.8:g.35182077T>C , CM000676.1:g.35182077T>C | GRCh37 |
| NC_000014.7:g.34251828T>C | NCBI36 |
| NG_012740.1:g.6953A>G , LRG_213:g.6953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.495A>G MANE Select | ENSP00000298159.6:p.Pro165= | |
| ENST00000341223.8:c.495A>G | ENSP00000340635.3:p.Pro165= | |
| ENST00000672163.1:c.495A>G | ENSP00000500375.1:p.Pro165= | |
| ENST00000672517.1:c.495A>G | ENSP00000500532.1:p.Pro165= | |
| ENST00000673315.1:c.444A>G | ENSP00000500002.1:p.Pro148= | |
| ENST00000298159.10:c.495A>G | ENSP00000298159.6:p.Pro165= | |
| ENST00000341223.7:c.495A>G | ENSP00000340635.3:p.Pro165= | |
| ENST00000422678.2:c.*175A>G | ENSP00000409326.2:n.*175A>G | |
| ENST00000554470.5:c.*175A>G | ENSP00000450862.1:n.*175A>G | |
| ENST00000555765.5:c.444A>G | ENSP00000452451.1:p.Pro148= | |
| ENST00000556161.1:c.444A>G | ENSP00000452188.1:p.Pro148= | |
| NM_001243645.1:c.444A>G | NP_001230574.1:p.Pro148= | |
| NM_021914.7:c.495A>G | NP_068733.1:p.Pro165= | |
| NM_138638.4:c.495A>G , LRG_213t1:c.495A>G | NP_619579.1:p.Pro165= | |
| NR_028130.1:n.635A>G | ||
| NR_028131.1:n.524A>G | ||
| XM_011536363.1:c.444A>G | XP_011534665.1:p.Pro148= | |
| XM_011536363.3:c.444A>G | XP_011534665.1:p.Pro148= | |
| NM_138638.5:c.495A>G MANE Select | NP_619579.1:p.Pro165= | |
| NM_001243645.2:c.444A>G | NP_001230574.1:p.Pro148= | |
| NM_021914.8:c.495A>G | NP_068733.1:p.Pro165= | |
| NR_028130.2:n.405A>G | ||
| NR_028131.2:n.294A>G |