Linked Data
dbSNP Id:
rs752434034
ExAC:
12:102153808 C / T
gnomAD v2:
12-102153808-C-T
gnomAD v4:
12-101760030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760030C>T , CM000674.2:g.101760030C>T | GRCh38 |
| NC_000012.11:g.102153808C>T , CM000674.1:g.102153808C>T | GRCh37 |
| NC_000012.10:g.100677939C>T | NCBI36 |
| NG_021243.1:g.75838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3249G>A MANE Select | ENSP00000299314.7:p.Leu1083= | |
| ENST00000299314.11:c.3249G>A | ENSP00000299314.7:p.Leu1083= | |
| ENST00000549194.1:n.115G>A | ||
| ENST00000550718.1:c.61G>A | ||
| NM_024312.4:c.3249G>A | NP_077288.2:p.Leu1083= | |
| XM_006719593.2:c.3249G>A | XP_006719656.1:p.Leu1083= | |
| XM_011538731.1:c.3168G>A | XP_011537033.1:p.Leu1056= | |
| XM_006719593.3:c.3249G>A | XP_006719656.1:p.Leu1083= | |
| XM_011538731.2:c.3168G>A | XP_011537033.1:p.Leu1056= | |
| XM_017019961.1:c.3033G>A | XP_016875450.1:p.Leu1011= | |
| XM_017019962.2:c.2022G>A | XP_016875451.1:p.Leu674= | |
| NM_024312.5:c.3249G>A MANE Select | NP_077288.2:p.Leu1083= |