Linked Data
ClinVar Variation Id:
433313
ClinVar RCV Id:
RCV000499297
dbSNP Id:
rs63749998
gnomAD v3:
16-16163119-A-G
gnomAD v4:
16-16163119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163119A>G , CM000678.2:g.16163119A>G | GRCh38 |
| NC_000016.9:g.16256976A>G , CM000678.1:g.16256976A>G | GRCh37 |
| NC_000016.8:g.16164477A>G | NCBI36 |
| NG_007558.2:g.65353T>C | |
| NG_007558.3:g.65499T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3380T>C | ENSP00000483331.2:p.Met1127Thr | |
| ENST00000205557.12:c.3380T>C MANE Select | ENSP00000205557.7:p.Met1127Thr | |
| ENST00000640696.1:c.321-1555T>C | ENSP00000492197.1:n.321-1555T>C | |
| ENST00000205557.11:c.3380T>C | ENSP00000205557.7:p.Met1127Thr | |
| ENST00000456970.6:c.3132-1555T>C | ENSP00000405002.2:n.3132-1555T>C | |
| ENST00000622290.4:c.*589T>C | ENSP00000483331.1:n.*589T>C | |
| NM_001171.5:c.3380T>C | NP_001162.4:p.Met1127Thr | |
| XM_011522479.1:c.3347T>C | XP_011520781.1:p.Met1116Thr | |
| XM_011522480.1:c.3038T>C | XP_011520782.1:p.Met1013Thr | |
| XM_011522481.1:c.3038T>C | XP_011520783.1:p.Met1013Thr | |
| XR_932836.1:n.3615T>C | ||
| XR_932837.1:n.3543-1555T>C | ||
| XR_932838.1:n.3543-1555T>C | ||
| XR_933133.1:n.407+276A>G | ||
| XR_933134.1:n.754+276A>G | ||
| NM_001351800.1:c.3038T>C | NP_001338729.1:p.Met1013Thr | |
| NR_147784.1:n.3169-1555T>C | ||
| XM_011522479.2:c.3347T>C | XP_011520781.1:p.Met1116Thr | |
| XM_011522481.3:c.3038T>C | XP_011520783.1:p.Met1013Thr | |
| XM_017023212.1:c.3212T>C | XP_016878701.1:p.Met1071Thr | |
| XM_017023214.1:c.3307-1555T>C | XP_016878703.1:n.3307-1555T>C | |
| XM_024450261.1:c.3416T>C | XP_024306029.1:p.Met1139Thr | |
| XR_932836.2:n.3561T>C | ||
| XR_932837.3:n.3488-1555T>C | ||
| XR_932838.3:n.3488-1555T>C | ||
| NM_001171.6:c.3380T>C MANE Select | NP_001162.5:p.Met1127Thr |