Linked Data
dbSNP Id:
rs540858898
ExAC:
15:75188645 C / T
gnomAD v2:
15-75188645-C-T
gnomAD v3:
15-74896304-C-T
gnomAD v4:
15-74896304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896304C>T , CM000677.2:g.74896304C>T | GRCh38 |
| NC_000015.9:g.75188645C>T , CM000677.1:g.75188645C>T | GRCh37 |
| NC_000015.8:g.72975698C>T | NCBI36 |
| NG_008921.1:g.11236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.823C>T MANE Select | ENSP00000318318.6:p.Pro275Ser | |
| ENST00000323744.10:c.640C>T | ENSP00000318192.6:p.Pro214Ser | |
| ENST00000352410.8:c.823C>T | ENSP00000318318.6:p.Pro275Ser | |
| ENST00000535694.5:c.673C>T | ENSP00000440447.1:p.Pro225Ser | |
| ENST00000562606.5:c.763C>T | ENSP00000457020.1:p.Pro255Ser | |
| ENST00000562800.5:c.256-1235C>T | ENSP00000457619.1:n.256-1235C>T | |
| ENST00000563422.5:c.823C>T | ENSP00000457885.1:p.Pro275Ser | |
| ENST00000563786.5:c.763C>T | ENSP00000455241.1:p.Pro255Ser | |
| ENST00000564003.5:c.490C>T | ENSP00000454312.1:p.Pro164Ser | |
| ENST00000566377.5:c.823C>T | ENSP00000455405.1:p.Pro275Ser | |
| ENST00000566556.1:n.871C>T | ||
| ENST00000567177.1:c.601C>T | ENSP00000457013.1:p.Pro201Ser | |
| ENST00000569931.5:c.763C>T | ENSP00000455161.1:p.Pro255Ser | |
| NM_001289155.1:c.823C>T | NP_001276084.1:p.Pro275Ser | |
| NM_001289156.1:c.673C>T | NP_001276085.1:p.Pro225Ser | |
| NM_001289157.1:c.640C>T | NP_001276086.1:p.Pro214Ser | |
| NM_002435.2:c.823C>T | NP_002426.1:p.Pro275Ser | |
| XM_011521592.1:c.811C>T | XP_011519894.1:p.Pro271Ser | |
| XM_011521593.1:c.763C>T | XP_011519895.1:p.Pro255Ser | |
| NM_001330372.1:c.763C>T | NP_001317301.1:p.Pro255Ser | |
| XM_017022208.1:c.763C>T | XP_016877697.1:p.Pro255Ser | |
| XM_017022209.2:c.673C>T | XP_016877698.1:p.Pro225Ser | |
| NM_002435.3:c.823C>T MANE Select | NP_002426.1:p.Pro275Ser | |
| NM_001289155.2:c.823C>T | NP_001276084.1:p.Pro275Ser | |
| NM_001289156.2:c.673C>T | NP_001276085.1:p.Pro225Ser | |
| NM_001289157.2:c.640C>T | NP_001276086.1:p.Pro214Ser | |
| NM_001330372.2:c.763C>T | NP_001317301.1:p.Pro255Ser |