Linked Data
ClinVar Variation Id:
930118
ClinVar RCV Id:
RCV001195563
dbSNP Id:
rs1455846667
gnomAD v2:
6-33132695-G-A
gnomAD v4:
6-33164918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164918G>A , CM000668.2:g.33164918G>A | GRCh38 |
| NC_000006.11:g.33132695G>A , CM000668.1:g.33132695G>A | GRCh37 |
| NC_000006.10:g.33240673G>A | NCBI36 |
| NG_011589.1:g.32551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.603C>T | ||
| ENST00000341947.7:c.4797C>T MANE Select | ENSP00000339915.2:p.Phe1599= | |
| ENST00000341947.6:c.4797C>T | ENSP00000339915.2:p.Phe1599= | |
| ENST00000361917.5:c.4476C>T | ENSP00000355123.1:p.Phe1492= | |
| ENST00000374708.8:c.4539C>T | ENSP00000363840.4:p.Phe1513= | |
| ENST00000477772.1:n.587C>T | ||
| NM_080679.2:c.4476C>T | NP_542410.2:p.Phe1492= | |
| NM_080680.2:c.4797C>T | NP_542411.2:p.Phe1599= | |
| NM_080681.2:c.4539C>T | NP_542412.2:p.Phe1513= | |
| XM_011514298.1:c.3951C>T | XP_011512600.1:p.Phe1317= | |
| XM_011514299.1:c.4083C>T | XP_011512601.1:p.Phe1361= | |
| XM_011514300.1:c.3903C>T | XP_011512602.1:p.Phe1301= | |
| XM_011514301.1:c.3840C>T | XP_011512603.1:p.Phe1280= | |
| XM_011514302.1:c.3684C>T | XP_011512604.1:p.Phe1228= | |
| XM_011514299.2:c.4083C>T | XP_011512601.1:p.Phe1361= | |
| XM_011514300.2:c.3903C>T | XP_011512602.1:p.Phe1301= | |
| XM_011514302.2:c.3684C>T | XP_011512604.1:p.Phe1228= | |
| XM_017010250.1:c.4797C>T | XP_016865739.1:p.Phe1599= | |
| XM_017010251.2:c.3615C>T | XP_016865740.1:p.Phe1205= | |
| NM_080680.3:c.4797C>T MANE Select | NP_542411.2:p.Phe1599= | |
| NM_080681.3:c.4539C>T | NP_542412.2:p.Phe1513= | |
| NM_080679.3:c.4476C>T | NP_542410.2:p.Phe1492= |