Linked Data
ClinVar Variation Id:
39071
dbSNP Id:
rs142065232
ExAC:
12:102151014 A / T
gnomAD v2:
12-102151014-A-T
gnomAD v3:
12-101757236-A-T
gnomAD v4:
12-101757236-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757236A>T , CM000674.2:g.101757236A>T | GRCh38 |
| NC_000012.11:g.102151014A>T , CM000674.1:g.102151014A>T | GRCh37 |
| NC_000012.10:g.100675145A>T | NCBI36 |
| NG_021243.1:g.78632T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.3410T>A MANE Select | ENSP00000299314.7:p.Leu1137Ter | |
| ENST00000299314.11:c.3410T>A | ENSP00000299314.7:p.Leu1137Ter | |
| ENST00000549194.1:n.276T>A | ||
| ENST00000549738.5:c.161T>A | ENSP00000450161.1:p.Leu54Ter | |
| ENST00000550718.1:c.222T>A | ||
| NM_024312.4:c.3410T>A | NP_077288.2:p.Leu1137Ter | |
| XM_006719593.2:c.3410T>A | XP_006719656.1:p.Leu1137Ter | |
| XM_011538731.1:c.3329T>A | XP_011537033.1:p.Leu1110Ter | |
| XM_006719593.3:c.3410T>A | XP_006719656.1:p.Leu1137Ter | |
| XM_011538731.2:c.3329T>A | XP_011537033.1:p.Leu1110Ter | |
| XM_017019961.1:c.3194T>A | XP_016875450.1:p.Leu1065Ter | |
| XM_017019962.2:c.2183T>A | XP_016875451.1:p.Leu728Ter | |
| NM_024312.5:c.3410T>A MANE Select | NP_077288.2:p.Leu1137Ter |