Linked Data
ClinVar Variation Id:
14347
ClinVar RCV Id:
RCV000015421
dbSNP Id:
rs104894495
gnomAD v4:
15-74892728-T-C
PubMed:
PMID:9585601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74892728T>C , CM000677.2:g.74892728T>C | GRCh38 |
| NC_000015.9:g.75185069T>C , CM000677.1:g.75185069T>C | GRCh37 |
| NC_000015.8:g.72972122T>C | NCBI36 |
| NG_008921.1:g.7660T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.413T>C MANE Select | ENSP00000318318.6:p.Met138Thr | |
| ENST00000323744.10:c.413T>C | ENSP00000318192.6:p.Met138Thr | |
| ENST00000352410.8:c.413T>C | ENSP00000318318.6:p.Met138Thr | |
| ENST00000535694.5:c.263T>C | ENSP00000440447.1:p.Met88Thr | |
| ENST00000561470.5:c.*309T>C | ENSP00000454267.1:n.*309T>C | |
| ENST00000562606.5:c.353T>C | ENSP00000457020.1:p.Met118Thr | |
| ENST00000562800.5:c.255+1239T>C | ENSP00000457619.1:n.255+1239T>C | |
| ENST00000563422.5:c.413T>C | ENSP00000457885.1:p.Met138Thr | |
| ENST00000563786.5:c.353T>C | ENSP00000455241.1:p.Met118Thr | |
| ENST00000564003.5:c.263T>C | ENSP00000454312.1:p.Met88Thr | |
| ENST00000564633.5:c.353T>C | ENSP00000455383.1:p.Met118Thr | |
| ENST00000565576.5:c.413T>C | ENSP00000454619.1:p.Met138Thr | |
| ENST00000566377.5:c.413T>C | ENSP00000455405.1:p.Met138Thr | |
| ENST00000567116.5:n.444T>C | ||
| ENST00000567132.5:c.371T>C | ENSP00000455972.1:p.Met124Thr | |
| ENST00000567177.1:c.374T>C | ENSP00000457013.1:p.Met125Thr | |
| ENST00000567570.5:c.353T>C | ENSP00000455477.1:p.Met118Thr | |
| ENST00000568828.5:c.377T>C | ENSP00000455065.1:p.Met126Thr | |
| ENST00000568840.1:n.522T>C | ||
| ENST00000568907.5:c.323T>C | ENSP00000457494.1:p.Met108Thr | |
| ENST00000569233.5:c.470T>C | ENSP00000454622.1:p.Met157Thr | |
| ENST00000569931.5:c.353T>C | ENSP00000455161.1:p.Met118Thr | |
| NM_001289155.1:c.413T>C | NP_001276084.1:p.Met138Thr | |
| NM_001289156.1:c.263T>C | NP_001276085.1:p.Met88Thr | |
| NM_001289157.1:c.413T>C | NP_001276086.1:p.Met138Thr | |
| NM_002435.2:c.413T>C | NP_002426.1:p.Met138Thr | |
| XM_011521592.1:c.401T>C | XP_011519894.1:p.Met134Thr | |
| XM_011521593.1:c.353T>C | XP_011519895.1:p.Met118Thr | |
| NM_001330372.1:c.353T>C | NP_001317301.1:p.Met118Thr | |
| XM_017022208.1:c.353T>C | XP_016877697.1:p.Met118Thr | |
| XM_017022209.2:c.263T>C | XP_016877698.1:p.Met88Thr | |
| NM_002435.3:c.413T>C MANE Select | NP_002426.1:p.Met138Thr | |
| NM_001289155.2:c.413T>C | NP_001276084.1:p.Met138Thr | |
| NM_001289156.2:c.263T>C | NP_001276085.1:p.Met88Thr | |
| NM_001289157.2:c.413T>C | NP_001276086.1:p.Met138Thr | |
| NM_001330372.2:c.353T>C | NP_001317301.1:p.Met118Thr |