Linked Data
ClinVar Variation Id:
356382
ClinVar RCV Id:
RCV000268653
RCV000310865
RCV000314487
RCV000365478
RCV000402862
RCV000607000
RCV001540161
dbSNP Id:
rs372250466
ExAC:
6:33132242 G / A
gnomAD v2:
6-33132242-G-A
gnomAD v3:
6-33164465-G-A
gnomAD v4:
6-33164465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164465G>A , CM000668.2:g.33164465G>A | GRCh38 |
| NC_000006.11:g.33132242G>A , CM000668.1:g.33132242G>A | GRCh37 |
| NC_000006.10:g.33240220G>A | NCBI36 |
| NG_011589.1:g.33004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.678C>T | ||
| ENST00000341947.7:c.4872C>T MANE Select | ENSP00000339915.2:p.Tyr1624= | |
| ENST00000341947.6:c.4872C>T | ENSP00000339915.2:p.Tyr1624= | |
| ENST00000361917.5:c.4551C>T | ENSP00000355123.1:p.Tyr1517= | |
| ENST00000374708.8:c.4614C>T | ENSP00000363840.4:p.Tyr1538= | |
| ENST00000477772.1:n.662C>T | ||
| NM_080679.2:c.4551C>T | NP_542410.2:p.Tyr1517= | |
| NM_080680.2:c.4872C>T | NP_542411.2:p.Tyr1624= | |
| NM_080681.2:c.4614C>T | NP_542412.2:p.Tyr1538= | |
| XM_011514298.1:c.4026C>T | XP_011512600.1:p.Tyr1342= | |
| XM_011514299.1:c.4158C>T | XP_011512601.1:p.Tyr1386= | |
| XM_011514300.1:c.3978C>T | XP_011512602.1:p.Tyr1326= | |
| XM_011514301.1:c.3915C>T | XP_011512603.1:p.Tyr1305= | |
| XM_011514302.1:c.3759C>T | XP_011512604.1:p.Tyr1253= | |
| XM_011514299.2:c.4158C>T | XP_011512601.1:p.Tyr1386= | |
| XM_011514300.2:c.3978C>T | XP_011512602.1:p.Tyr1326= | |
| XM_011514302.2:c.3759C>T | XP_011512604.1:p.Tyr1253= | |
| XM_017010250.1:c.4872C>T | XP_016865739.1:p.Tyr1624= | |
| XM_017010251.2:c.3690C>T | XP_016865740.1:p.Tyr1230= | |
| NM_080680.3:c.4872C>T MANE Select | NP_542411.2:p.Tyr1624= | |
| NM_080681.3:c.4614C>T | NP_542412.2:p.Tyr1538= | |
| NM_080679.3:c.4551C>T | NP_542410.2:p.Tyr1517= |