Linked Data
ClinVar Variation Id:
392328
dbSNP Id:
rs375196212
ExAC:
9:139399283 G / A
gnomAD v2:
9-139399283-G-A
gnomAD v3:
9-136504831-G-A
gnomAD v4:
9-136504831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504831G>A , CM000671.2:g.136504831G>A | GRCh38 |
| NC_000009.11:g.139399283G>A , CM000671.1:g.139399283G>A | GRCh37 |
| NC_000009.10:g.138519104G>A | NCBI36 |
| NG_007458.1:g.45956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2667C>T | ||
| ENST00000651671.1:c.4860C>T MANE Select | ENSP00000498587.1:p.Tyr1620= | |
| ENST00000679595.1:c.4860C>T | ENSP00000506241.1:p.Tyr1620= | |
| ENST00000680133.1:c.4746C>T | ENSP00000505319.1:p.Tyr1582= | |
| ENST00000680218.1:c.4740C>T | ENSP00000505339.1:p.Tyr1580= | |
| ENST00000680668.1:c.4746C>T | ENSP00000506336.1:p.Tyr1582= | |
| ENST00000680778.1:c.2457C>T | ENSP00000506033.1:p.Tyr819= | |
| ENST00000680924.1:c.*2260C>T | ENSP00000506031.1:n.*2260C>T | |
| ENST00000681135.1:c.*2469C>T | ENSP00000506636.1:n.*2469C>T | |
| ENST00000681298.1:n.1673C>T | ||
| ENST00000681454.1:c.*4096C>T | ENSP00000505763.1:n.*4096C>T | |
| ENST00000277541.6:c.4860C>T | ENSP00000277541.6:p.Tyr1620= | |
| ENST00000494783.1:n.15C>T | ||
| NM_017617.3:c.4860C>T | NP_060087.3:p.Tyr1620= | |
| XM_011518717.1:c.4161C>T | XP_011517019.1:p.Tyr1387= | |
| NM_017617.5:c.4860C>T MANE Select | NP_060087.3:p.Tyr1620= | |
| XM_011518717.2:c.4137C>T | XP_011517019.2:p.Tyr1379= |