Linked Data
ClinVar Variation Id:
165376
ClinVar RCV Id:
RCV000151993
RCV000313027
RCV000399240
RCV000366513
RCV001560519
RCV002256086
RCV002514931
RCV002321629
dbSNP Id:
rs181612536
ExAC:
5:1255454 G / A
gnomAD v2:
5-1255454-G-A
gnomAD v3:
5-1255339-G-A
gnomAD v4:
5-1255339-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1255339G>A , CM000667.2:g.1255339G>A | GRCh38 |
| NC_000005.9:g.1255454G>A , CM000667.1:g.1255454G>A | GRCh37 |
| NC_000005.8:g.1308454G>A | NCBI36 |
| NG_009265.1:g.44709C>T , LRG_343:g.44709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.3105C>T MANE Select | ENSP00000309572.5:p.Val1035= | |
| ENST00000656021.1:c.*2651C>T | ENSP00000499759.1:n.*2651C>T | |
| ENST00000667927.1:n.393C>T | ||
| ENST00000310581.9:c.3105C>T | ENSP00000309572.5:p.Val1035= | |
| ENST00000334602.10:c.2916C>T | ENSP00000334346.6:p.Val972= | |
| ENST00000460137.6:c.2698C>T | ENSP00000425003.1:n.2698C>T | |
| ENST00000484238.6:n.1547C>T | ||
| NM_001193376.1:c.2916C>T | NP_001180305.1:p.Val972= | |
| NM_198253.2:c.3105C>T , LRG_343t1:c.3105C>T | NP_937983.2:p.Val1035= | |
| XM_011514104.1:c.1575C>T | XP_011512406.1:p.Val525= | |
| XM_011514105.1:c.1461C>T | XP_011512407.1:p.Val487= | |
| XM_011514106.1:c.1461C>T | XP_011512408.1:p.Val487= | |
| XR_925683.1:n.380G>A | ||
| NR_149162.1:n.2792C>T | ||
| NR_149163.1:n.2756C>T | ||
| NM_001193376.2:c.2916C>T | NP_001180305.1:p.Val972= | |
| NM_198253.3:c.3105C>T MANE Select | NP_937983.2:p.Val1035= | |
| NR_149162.2:n.2813C>T | ||
| NR_149163.2:n.2777C>T | ||
| NM_001193376.3:c.2916C>T | NP_001180305.1:p.Val972= | |
| NR_149162.3:n.2813C>T | ||
| NR_149163.3:n.2777C>T |