Linked Data
dbSNP Id:
rs2073054767
gnomAD v3:
13-32398549-T-C
gnomAD v4:
13-32398549-T-C
MyVariant Identifiers:
chr13:g.32972686T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398549T>C , CM000675.2:g.32398549T>C | GRCh38 |
| NC_000013.10:g.32972686T>C , CM000675.1:g.32972686T>C | GRCh37 |
| NC_000013.9:g.31870686T>C | NCBI36 |
| NG_012772.3:g.88070T>C , LRG_293:g.88070T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*559T>C | ENSP00000434898.2:n.*559T>C | |
| ENST00000528762.2:c.*1403T>C | ENSP00000433168.2:n.*1403T>C | |
| ENST00000530893.7:c.9667T>C | ENSP00000499438.2:p.Leu3223= | |
| ENST00000665585.2:c.*1598T>C | ENSP00000499570.2:n.*1598T>C | |
| ENST00000700202.2:c.9985T>C | ENSP00000514856.2:p.Leu3329= | |
| ENST00000700202.1:c.2452T>C | ENSP00000514856.1:p.Leu818= | |
| ENST00000700203.1:n.2163T>C | ||
| ENST00000380152.8:c.10036T>C MANE Select | ENSP00000369497.3:p.Leu3346= | |
| ENST00000544455.6:c.10036T>C | ENSP00000439902.1:p.Leu3346= | |
| ENST00000614259.2:c.10044T>C | ENSP00000506251.1:n.10044T>C | |
| ENST00000680887.1:c.10036T>C | ENSP00000505508.1:p.Leu3346= | |
| ENST00000380152.7:c.10036T>C | ENSP00000369497.3:p.Leu3346= | |
| ENST00000544455.5:c.10036T>C | ENSP00000439902.1:p.Leu3346= | |
| NM_000059.3:c.10036T>C , LRG_293t1:c.10036T>C | NP_000050.2:p.Leu3346= | |
| XM_011535203.1:c.10036T>C | XP_011533505.1:p.Leu3346= | |
| XM_011535204.1:c.9940T>C | XP_011533506.1:p.Leu3314= | |
| NM_000059.4:c.10036T>C MANE Select | NP_000050.3:p.Leu3346= |