Linked Data
ClinVar Variation Id:
195557
dbSNP Id:
rs780296175
ExAC:
15:28116337 G / A
gnomAD v2:
15-28116337-G-A
gnomAD v3:
15-27871191-G-A
gnomAD v4:
15-27871191-G-A
COSMIC:
COSM1372213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27871191G>A , CM000677.2:g.27871191G>A | GRCh38 |
| NC_000015.9:g.28116337G>A , CM000677.1:g.28116337G>A | GRCh37 |
| NC_000015.8:g.25789932G>A | NCBI36 |
| NG_009846.1:g.233122C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.2207C>T MANE Select | ENSP00000346659.3:p.Ser736Leu | |
| ENST00000353809.9:c.2135C>T | ENSP00000261276.8:p.Ser712Leu | |
| ENST00000354638.7:c.2207C>T | ENSP00000346659.3:p.Ser736Leu | |
| NM_000275.2:c.2207C>T | NP_000266.2:p.Ser736Leu | |
| NM_001300984.1:c.2135C>T | NP_001287913.1:p.Ser712Leu | |
| XM_011521639.1:c.2231C>T | XP_011519941.1:p.Ser744Leu | |
| XM_011521640.1:c.2207C>T | XP_011519942.1:p.Ser736Leu | |
| XM_011521641.1:c.2231C>T | XP_011519943.1:p.Ser744Leu | |
| XM_011521642.1:c.2159C>T | XP_011519944.1:p.Ser720Leu | |
| XM_011521643.1:c.2159C>T | XP_011519945.1:p.Ser720Leu | |
| XM_011521644.1:c.2093C>T | XP_011519946.1:p.Ser698Leu | |
| XM_011521645.1:c.2104-19716C>T | XP_011519947.1:n.2104-19716C>T | |
| XM_011521640.2:c.2207C>T | XP_011519942.1:p.Ser736Leu | |
| XM_017022255.1:c.2231C>T | XP_016877744.1:p.Ser744Leu | |
| XM_017022256.1:c.2231C>T | XP_016877745.1:p.Ser744Leu | |
| XM_017022257.1:c.2159C>T | XP_016877746.1:p.Ser720Leu | |
| XM_017022258.1:c.2231C>T | XP_016877747.1:p.Ser744Leu | |
| XM_017022259.1:c.2159C>T | XP_016877748.1:p.Ser720Leu | |
| XM_017022260.1:c.2093C>T | XP_016877749.1:p.Ser698Leu | |
| XM_017022261.1:c.2036C>T | XP_016877750.1:p.Ser679Leu | |
| XM_017022262.1:c.2231C>T | XP_016877751.1:p.Ser744Leu | |
| XM_017022263.1:c.2104-19716C>T | XP_016877752.1:n.2104-19716C>T | |
| XM_017022264.1:c.2104-19716C>T | XP_016877753.1:n.2104-19716C>T | |
| NM_000275.3:c.2207C>T MANE Select | NP_000266.2:p.Ser736Leu | |
| NM_001300984.2:c.2135C>T | NP_001287913.1:p.Ser712Leu |