Linked Data
dbSNP Id:
rs116858574
ExAC:
15:34520687 T / C
gnomAD v2:
15-34520687-T-C
gnomAD v3:
15-34228486-T-C
gnomAD v4:
15-34228486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34228486T>C , CM000677.2:g.34228486T>C | GRCh38 |
| NC_000015.9:g.34520687T>C , CM000677.1:g.34520687T>C | GRCh37 |
| NC_000015.8:g.32307979T>C | NCBI36 |
| NG_007951.1:g.114579A>G , LRG_270:g.114579A>G | |
| NG_054746.1:g.8490T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267750.9:c.413T>C MANE Select | ENSP00000267750.4:p.Ile138Thr | |
| ENST00000249209.8:c.355+640T>C | ENSP00000249209.4:n.355+640T>C | |
| ENST00000267750.8:c.413T>C | ENSP00000267750.4:p.Ile138Thr | |
| ENST00000557879.1:c.*358T>C | ENSP00000473881.1:n.*358T>C | |
| ENST00000558102.1:c.*108+640T>C | ENSP00000453880.1:n.*108+640T>C | |
| ENST00000558205.5:c.*166T>C | ENSP00000454042.1:n.*166T>C | |
| ENST00000559078.5:c.304-480T>C | ENSP00000454052.1:n.304-480T>C | |
| ENST00000559421.1:c.202-1267T>C | ENSP00000452672.1:n.202-1267T>C | |
| ENST00000560911.5:c.*166T>C | ENSP00000453610.1:n.*166T>C | |
| ENST00000560947.1:c.202T>C | ||
| ENST00000561246.1:n.1313+662T>C | ||
| NM_001286420.1:c.355+640T>C | NP_001273349.1:n.355+640T>C | |
| NM_016454.3:c.413T>C | NP_057538.1:p.Ile138Thr | |
| NM_001351373.1:c.170T>C | NP_001338302.1:p.Ile57Thr | |
| NR_147140.1:n.481+640T>C | ||
| NM_016454.4:c.413T>C MANE Select | NP_057538.1:p.Ile138Thr | |
| NM_001286420.2:c.355+640T>C | NP_001273349.1:n.355+640T>C | |
| NM_001351373.2:c.170T>C | NP_001338302.1:p.Ile57Thr | |
| NR_147140.2:n.462+640T>C |