Linked Data
ClinVar Variation Id:
36248
ClinVar RCV Id:
RCV000029911
dbSNP Id:
rs193922323
gnomAD v4:
7-44147809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147809A>G , CM000669.2:g.44147809A>G | GRCh38 |
| NC_000007.13:g.44187408A>G , CM000669.1:g.44187408A>G | GRCh37 |
| NC_000007.12:g.44153933A>G | NCBI36 |
| NG_008847.1:g.46615T>C | |
| NG_008847.2:g.55362T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*702T>C | ENSP00000379142.4:n.*702T>C | |
| ENST00000616242.5:c.704T>C | ENSP00000482149.2:p.Met235Thr | |
| ENST00000345378.7:c.707T>C | ENSP00000223366.2:p.Met236Thr | |
| ENST00000403799.8:c.704T>C MANE Select | ENSP00000384247.3:p.Met235Thr | |
| ENST00000671824.1:c.704T>C | ENSP00000500264.1:p.Met235Thr | |
| ENST00000673284.1:c.704T>C | ENSP00000499852.1:p.Met235Thr | |
| ENST00000345378.6:c.707T>C | ENSP00000223366.2:p.Met236Thr | |
| ENST00000395796.7:c.701T>C | ENSP00000379142.3:p.Met234Thr | |
| ENST00000403799.7:c.704T>C | ENSP00000384247.3:p.Met235Thr | |
| ENST00000437084.1:c.653T>C | ENSP00000402840.1:p.Met218Thr | |
| ENST00000616242.4:c.701T>C | ENSP00000482149.1:p.Met234Thr | |
| NM_000162.3:c.704T>C | NP_000153.1:p.Met235Thr | |
| NM_033507.1:c.707T>C | NP_277042.1:p.Met236Thr | |
| NM_033508.1:c.701T>C | NP_277043.1:p.Met234Thr | |
| XR_927223.1:n.82+61A>G | ||
| NM_000162.4:c.704T>C | NP_000153.1:p.Met235Thr | |
| NM_001354800.1:c.704T>C | NP_001341729.1:p.Met235Thr | |
| NM_033507.2:c.707T>C | NP_277042.1:p.Met236Thr | |
| NM_033508.2:c.701T>C | NP_277043.1:p.Met234Thr | |
| XR_927223.2:n.82+61A>G | ||
| NM_000162.5:c.704T>C MANE Select | NP_000153.1:p.Met235Thr | |
| NM_033507.3:c.707T>C | NP_277042.1:p.Met236Thr | |
| NM_033508.3:c.701T>C | NP_277043.1:p.Met234Thr |