Linked Data
ClinVar Variation Id:
2914428
ClinVar RCV Id:
RCV003637441
MyVariant Identifiers:
chr16:g.10995983G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10902126G>C , CM000678.2:g.10902126G>C | GRCh38 |
| NC_000016.9:g.10995983G>C , CM000678.1:g.10995983G>C | GRCh37 |
| NC_000016.8:g.10903484G>C | NCBI36 |
| NG_009628.1:g.29929G>C , LRG_49:g.29929G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.595G>C | ||
| ENST00000324288.14:c.570G>C MANE Select | ENSP00000316328.8:p.Leu190= | |
| ENST00000324288.12:c.570G>C | ENSP00000316328.8:p.Leu190= | |
| ENST00000381835.9:c.482-532G>C | ENSP00000371257.5:n.482-532G>C | |
| ENST00000537380.1:n.570G>C | ||
| ENST00000570546.5:n.691G>C | ||
| ENST00000571186.5:c.*291G>C | ENSP00000459829.1:n.*291G>C | |
| ENST00000573309.5:n.600-532G>C | ||
| ENST00000576601.1:c.498G>C | ENSP00000459608.1:p.Leu166= | |
| ENST00000611587.4:c.485-532G>C | ENSP00000483487.1:n.485-532G>C | |
| ENST00000618207.4:c.570G>C | ENSP00000484761.1:p.Leu190= | |
| ENST00000618327.4:c.573G>C | ENSP00000485010.1:p.Leu191= | |
| NM_000246.3:c.570G>C , LRG_49t1:c.570G>C | NP_000237.2:p.Leu190= | |
| NM_001286402.1:c.573G>C | NP_001273331.1:p.Leu191= | |
| NM_001286403.1:c.482-532G>C | NP_001273332.1:n.482-532G>C | |
| NR_104444.1:n.703G>C | ||
| XM_006720880.2:c.867G>C | XP_006720943.2:p.Leu289= | |
| XM_011522484.1:c.867G>C | XP_011520786.1:p.Leu289= | |
| XM_011522485.1:c.867G>C | XP_011520787.1:p.Leu289= | |
| XM_011522486.1:c.867G>C | XP_011520788.1:p.Leu289= | |
| XM_011522487.1:c.680-532G>C | XP_011520789.1:n.680-532G>C | |
| XM_011522488.1:c.618G>C | XP_011520790.1:p.Leu206= | |
| XM_011522489.1:c.677-532G>C | XP_011520791.1:n.677-532G>C | |
| XM_011522490.1:c.615G>C | XP_011520792.1:p.Leu205= | |
| XM_011522491.1:c.867G>C | XP_011520793.1:p.Leu289= | |
| XM_011522492.1:c.573G>C | XP_011520794.1:p.Leu191= | |
| XM_011522493.1:c.570G>C | XP_011520795.1:p.Leu190= | |
| XM_011522494.1:c.501G>C | XP_011520796.1:p.Leu167= | |
| XM_011522495.1:c.485-532G>C | XP_011520797.1:n.485-532G>C | |
| XM_011522496.1:c.482-532G>C | XP_011520798.1:n.482-532G>C | |
| XR_932841.1:n.882G>C | ||
| XR_932842.1:n.882G>C | ||
| XR_932843.1:n.882G>C | ||
| XR_932846.1:n.882G>C | ||
| XR_932847.1:n.882G>C | ||
| XR_932848.1:n.632-532G>C | ||
| XM_006720880.3:c.867G>C | XP_006720943.2:p.Leu289= | |
| XM_011522484.3:c.867G>C | XP_011520786.1:p.Leu289= | |
| XM_011522485.2:c.867G>C | XP_011520787.1:p.Leu289= | |
| XM_011522486.2:c.867G>C | XP_011520788.1:p.Leu289= | |
| XM_011522487.2:c.680-532G>C | XP_011520789.1:n.680-532G>C | |
| XM_011522488.2:c.618G>C | XP_011520790.1:p.Leu206= | |
| XM_011522489.2:c.677-532G>C | XP_011520791.1:n.677-532G>C | |
| XM_011522490.2:c.615G>C | XP_011520792.1:p.Leu205= | |
| XM_011522491.2:c.867G>C | XP_011520793.1:p.Leu289= | |
| XM_011522492.2:c.573G>C | XP_011520794.1:p.Leu191= | |
| XM_011522493.2:c.570G>C | XP_011520795.1:p.Leu190= | |
| XM_011522494.2:c.501G>C | XP_011520796.1:p.Leu167= | |
| XM_011522495.2:c.485-532G>C | XP_011520797.1:n.485-532G>C | |
| XM_011522496.2:c.482-532G>C | XP_011520798.1:n.482-532G>C | |
| XM_024450280.1:c.813G>C | XP_024306048.1:p.Leu271= | |
| XM_024450281.1:c.725-532G>C | XP_024306049.1:n.725-532G>C | |
| XR_001751904.1:n.886G>C | ||
| XR_932841.3:n.884G>C | ||
| XR_932842.2:n.884G>C | ||
| XR_932846.3:n.886G>C | ||
| XR_932847.3:n.886G>C | ||
| NM_001286403.2:c.482-532G>C | NP_001273332.1:n.482-532G>C | |
| NR_104444.2:n.699G>C | ||
| NM_000246.4:c.570G>C MANE Select | NP_000237.2:p.Leu190= | |
| NM_001379330.1:c.485-532G>C | NP_001366259.1:n.485-532G>C | |
| NM_001379331.1:c.482-532G>C | NP_001366260.1:n.482-532G>C | |
| NM_001379332.1:c.573G>C | NP_001366261.1:p.Leu191= | |
| NM_001379333.1:c.570G>C | NP_001366262.1:p.Leu190= | |
| NM_001379334.1:c.501G>C | NP_001366263.1:p.Leu167= |