Linked Data
gnomAD v3:
18-33743856-T-C
gnomAD v4:
18-33743856-T-C
MyVariant Identifiers:
chr18:g.31323820T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33743856T>C , CM000680.2:g.33743856T>C | GRCh38 |
| NC_000018.9:g.31323820T>C , CM000680.1:g.31323820T>C | GRCh37 |
| NC_000018.8:g.29577818T>C | NCBI36 |
| NG_055244.1:g.170280T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.4011T>C | ENSP00000513003.1:p.Thr1337= | |
| ENST00000269197.12:c.4008T>C MANE Select | ENSP00000269197.4:p.Thr1336= | |
| ENST00000681521.1:c.3888T>C | ENSP00000506037.1:p.Thr1296= | |
| ENST00000269197.9:c.4008T>C | ENSP00000269197.4:p.Thr1336= | |
| NM_030632.1:c.4008T>C | NP_085135.1:p.Thr1336= | |
| XM_005258356.1:c.4011T>C | XP_005258413.1:p.Thr1337= | |
| XM_011526205.1:c.3984T>C | XP_011524507.1:p.Thr1328= | |
| XM_011526206.1:c.3930T>C | XP_011524508.1:p.Thr1310= | |
| XM_011526207.1:c.3930T>C | XP_011524509.1:p.Thr1310= | |
| XM_011526208.1:c.3891T>C | XP_011524510.1:p.Thr1297= | |
| XM_011526209.1:c.3840T>C | XP_011524511.1:p.Thr1280= | |
| XM_011526210.1:c.3840T>C | XP_011524512.1:p.Thr1280= | |
| XM_011526211.1:c.3840T>C | XP_011524513.1:p.Thr1280= | |
| XM_011526212.1:c.3840T>C | XP_011524514.1:p.Thr1280= | |
| XM_011526213.1:c.3840T>C | XP_011524515.1:p.Thr1280= | |
| XM_011526214.1:c.3840T>C | XP_011524516.1:p.Thr1280= | |
| XM_011526215.1:c.972T>C | XP_011524517.1:p.Thr324= | |
| NM_030632.2:c.4008T>C | NP_085135.1:p.Thr1336= | |
| XM_011526205.2:c.3984T>C | XP_011524507.1:p.Thr1328= | |
| XM_011526206.2:c.3930T>C | XP_011524508.1:p.Thr1310= | |
| XM_011526213.2:c.3840T>C | XP_011524515.1:p.Thr1280= | |
| XM_017026012.1:c.3930T>C | XP_016881501.1:p.Thr1310= | |
| XM_017026013.1:c.3840T>C | XP_016881502.1:p.Thr1280= | |
| XM_017026014.2:c.3840T>C | XP_016881503.1:p.Thr1280= | |
| XM_024451269.1:c.3840T>C | XP_024307037.1:p.Thr1280= | |
| NM_030632.3:c.4008T>C MANE Select | NP_085135.1:p.Thr1336= |