Linked Data
ClinVar Variation Id:
989846
ClinVar RCV Id:
RCV001277747
dbSNP Id:
rs768186349
MyVariant Identifiers:
chr15:g.75188494G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896153G>C , CM000677.2:g.74896153G>C | GRCh38 |
| NC_000015.9:g.75188494G>C , CM000677.1:g.75188494G>C | GRCh37 |
| NC_000015.8:g.72975547G>C | NCBI36 |
| NG_008921.1:g.11085G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.672G>C MANE Select | ENSP00000318318.6:p.Ala224= | |
| ENST00000323744.10:c.489G>C | ENSP00000318192.6:p.Thr163= | |
| ENST00000352410.8:c.672G>C | ENSP00000318318.6:p.Ala224= | |
| ENST00000535694.5:c.522G>C | ENSP00000440447.1:p.Ala174= | |
| ENST00000561470.5:c.*568G>C | ENSP00000454267.1:n.*568G>C | |
| ENST00000562606.5:c.612G>C | ENSP00000457020.1:p.Ala204= | |
| ENST00000562800.5:c.256-1386G>C | ENSP00000457619.1:n.256-1386G>C | |
| ENST00000563422.5:c.672G>C | ENSP00000457885.1:p.Ala224= | |
| ENST00000563786.5:c.612G>C | ENSP00000455241.1:p.Ala204= | |
| ENST00000564003.5:c.339G>C | ENSP00000454312.1:p.Thr113= | |
| ENST00000566377.5:c.672G>C | ENSP00000455405.1:p.Ala224= | |
| ENST00000566556.1:n.720G>C | ||
| ENST00000567177.1:c.450G>C | ENSP00000457013.1:p.Thr150= | |
| ENST00000569931.5:c.612G>C | ENSP00000455161.1:p.Ala204= | |
| NM_001289155.1:c.672G>C | NP_001276084.1:p.Ala224= | |
| NM_001289156.1:c.522G>C | NP_001276085.1:p.Ala174= | |
| NM_001289157.1:c.489G>C | NP_001276086.1:p.Thr163= | |
| NM_002435.2:c.672G>C | NP_002426.1:p.Ala224= | |
| XM_011521592.1:c.660G>C | XP_011519894.1:p.Ala220= | |
| XM_011521593.1:c.612G>C | XP_011519895.1:p.Ala204= | |
| NM_001330372.1:c.612G>C | NP_001317301.1:p.Ala204= | |
| XM_017022208.1:c.612G>C | XP_016877697.1:p.Ala204= | |
| XM_017022209.2:c.522G>C | XP_016877698.1:p.Ala174= | |
| NM_002435.3:c.672G>C MANE Select | NP_002426.1:p.Ala224= | |
| NM_001289155.2:c.672G>C | NP_001276084.1:p.Ala224= | |
| NM_001289156.2:c.522G>C | NP_001276085.1:p.Ala174= | |
| NM_001289157.2:c.489G>C | NP_001276086.1:p.Thr163= | |
| NM_001330372.2:c.612G>C | NP_001317301.1:p.Ala204= |