Linked Data
ClinVar Variation Id:
2876550
ClinVar RCV Id:
RCV003710349
dbSNP Id:
rs780011438
ExAC:
15:28171281 G / A
gnomAD v2:
15-28171281-G-A
gnomAD v4:
15-27926135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27926135G>A , CM000677.2:g.27926135G>A | GRCh38 |
| NC_000015.9:g.28171281G>A , CM000677.1:g.28171281G>A | GRCh37 |
| NC_000015.8:g.25844876G>A | NCBI36 |
| NG_009846.1:g.178178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2071C>T MANE Select | ENSP00000346659.3:p.Leu691= | |
| ENST00000353809.9:c.1999C>T | ENSP00000261276.8:p.Leu667= | |
| ENST00000354638.7:c.2071C>T | ENSP00000346659.3:p.Leu691= | |
| NM_000275.2:c.2071C>T | NP_000266.2:p.Leu691= | |
| NM_001300984.1:c.1999C>T | NP_001287913.1:p.Leu667= | |
| XM_011521639.1:c.2095C>T | XP_011519941.1:p.Leu699= | |
| XM_011521640.1:c.2071C>T | XP_011519942.1:p.Leu691= | |
| XM_011521641.1:c.2095C>T | XP_011519943.1:p.Leu699= | |
| XM_011521642.1:c.2023C>T | XP_011519944.1:p.Leu675= | |
| XM_011521643.1:c.2023C>T | XP_011519945.1:p.Leu675= | |
| XM_011521644.1:c.1957C>T | XP_011519946.1:p.Leu653= | |
| XM_011521645.1:c.2095C>T | XP_011519947.1:p.Leu699= | |
| XM_011521640.2:c.2071C>T | XP_011519942.1:p.Leu691= | |
| XM_017022255.1:c.2095C>T | XP_016877744.1:p.Leu699= | |
| XM_017022256.1:c.2095C>T | XP_016877745.1:p.Leu699= | |
| XM_017022257.1:c.2023C>T | XP_016877746.1:p.Leu675= | |
| XM_017022258.1:c.2095C>T | XP_016877747.1:p.Leu699= | |
| XM_017022259.1:c.2023C>T | XP_016877748.1:p.Leu675= | |
| XM_017022260.1:c.1957C>T | XP_016877749.1:p.Leu653= | |
| XM_017022261.1:c.1900C>T | XP_016877750.1:p.Leu634= | |
| XM_017022262.1:c.2095C>T | XP_016877751.1:p.Leu699= | |
| XM_017022263.1:c.2095C>T | XP_016877752.1:p.Leu699= | |
| XM_017022264.1:c.2095C>T | XP_016877753.1:p.Leu699= | |
| NM_000275.3:c.2071C>T MANE Select | NP_000266.2:p.Leu691= | |
| NM_001300984.2:c.1999C>T | NP_001287913.1:p.Leu667= |