Linked Data
ClinVar Variation Id:
2856815
ClinVar RCV Id:
RCV003638110
MyVariant Identifiers:
chr16:g.11002925G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10909068G>A , CM000678.2:g.10909068G>A | GRCh38 |
| NC_000016.9:g.11002925G>A , CM000678.1:g.11002925G>A | GRCh37 |
| NC_000016.8:g.10910426G>A | NCBI36 |
| NG_009628.1:g.36871G>A , LRG_49:g.36871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324288.14:c.2697G>A MANE Select | ENSP00000316328.8:p.Leu899= | |
| ENST00000324288.12:c.2697G>A | ENSP00000316328.8:p.Leu899= | |
| ENST00000381835.9:c.945G>A | ENSP00000371257.5:p.Leu315= | |
| ENST00000537380.1:n.1007-1120G>A | ||
| ENST00000570546.5:n.3697G>A | ||
| ENST00000618207.4:c.1007-1120G>A | ENSP00000484761.1:n.1007-1120G>A | |
| ENST00000618327.4:c.2700G>A | ENSP00000485010.1:p.Leu900= | |
| NM_000246.3:c.2697G>A , LRG_49t1:c.2697G>A | NP_000237.2:p.Leu899= | |
| NM_001286402.1:c.2700G>A | NP_001273331.1:p.Leu900= | |
| NM_001286403.1:c.945G>A | NP_001273332.1:p.Leu315= | |
| NR_104444.1:n.1140-1120G>A | ||
| XM_006720880.2:c.2994G>A | XP_006720943.2:p.Leu998= | |
| XM_011522484.1:c.2994G>A | XP_011520786.1:p.Leu998= | |
| XM_011522485.1:c.2994G>A | XP_011520787.1:p.Leu998= | |
| XM_011522486.1:c.2994G>A | XP_011520788.1:p.Leu998= | |
| XM_011522487.1:c.2748G>A | XP_011520789.1:p.Leu916= | |
| XM_011522488.1:c.2745G>A | XP_011520790.1:p.Leu915= | |
| XM_011522489.1:c.2745G>A | XP_011520791.1:p.Leu915= | |
| XM_011522490.1:c.2742G>A | XP_011520792.1:p.Leu914= | |
| XM_011522491.1:c.2994G>A | XP_011520793.1:p.Leu998= | |
| XM_011522492.1:c.2700G>A | XP_011520794.1:p.Leu900= | |
| XM_011522493.1:c.2697G>A | XP_011520795.1:p.Leu899= | |
| XM_011522494.1:c.2628G>A | XP_011520796.1:p.Leu876= | |
| XM_011522495.1:c.2553G>A | XP_011520797.1:p.Leu851= | |
| XM_011522496.1:c.2550G>A | XP_011520798.1:p.Leu850= | |
| XR_932841.1:n.3009G>A | ||
| XR_932842.1:n.3009G>A | ||
| XR_932843.1:n.3009G>A | ||
| XR_932846.1:n.3055G>A | ||
| XR_932847.1:n.3055G>A | ||
| XR_932848.1:n.1095G>A | ||
| XM_006720880.3:c.2994G>A | XP_006720943.2:p.Leu998= | |
| XM_011522484.3:c.2994G>A | XP_011520786.1:p.Leu998= | |
| XM_011522485.2:c.2994G>A | XP_011520787.1:p.Leu998= | |
| XM_011522486.2:c.2994G>A | XP_011520788.1:p.Leu998= | |
| XM_011522487.2:c.2748G>A | XP_011520789.1:p.Leu916= | |
| XM_011522488.2:c.2745G>A | XP_011520790.1:p.Leu915= | |
| XM_011522489.2:c.2745G>A | XP_011520791.1:p.Leu915= | |
| XM_011522490.2:c.2742G>A | XP_011520792.1:p.Leu914= | |
| XM_011522491.2:c.2994G>A | XP_011520793.1:p.Leu998= | |
| XM_011522492.2:c.2700G>A | XP_011520794.1:p.Leu900= | |
| XM_011522493.2:c.2697G>A | XP_011520795.1:p.Leu899= | |
| XM_011522494.2:c.2628G>A | XP_011520796.1:p.Leu876= | |
| XM_011522495.2:c.2553G>A | XP_011520797.1:p.Leu851= | |
| XM_011522496.2:c.2550G>A | XP_011520798.1:p.Leu850= | |
| XM_024450280.1:c.2940G>A | XP_024306048.1:p.Leu980= | |
| XM_024450281.1:c.2793G>A | XP_024306049.1:p.Leu931= | |
| XR_001751904.1:n.3059G>A | ||
| XR_932841.3:n.3011G>A | ||
| XR_932842.2:n.3011G>A | ||
| XR_932846.3:n.3059G>A | ||
| XR_932847.3:n.3059G>A | ||
| NM_001286403.2:c.945G>A | NP_001273332.1:p.Leu315= | |
| NR_104444.2:n.1136-1120G>A | ||
| NM_000246.4:c.2697G>A MANE Select | NP_000237.2:p.Leu899= | |
| NM_001379330.1:c.2553G>A | NP_001366259.1:p.Leu851= | |
| NM_001379331.1:c.2550G>A | NP_001366260.1:p.Leu850= | |
| NM_001379332.1:c.2700G>A | NP_001366261.1:p.Leu900= | |
| NM_001379333.1:c.2697G>A | NP_001366262.1:p.Leu899= | |
| NM_001379334.1:c.2628G>A | NP_001366263.1:p.Leu876= |