Linked Data
ClinVar Variation Id:
198396
dbSNP Id:
rs149120354
ExAC:
19:13006872 T / C
gnomAD v2:
19-13006872-T-C
gnomAD v3:
19-12896058-T-C
gnomAD v4:
19-12896058-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896058T>C , CM000681.2:g.12896058T>C | GRCh38 |
| NC_000019.9:g.13006872T>C , CM000681.1:g.13006872T>C | GRCh37 |
| NC_000019.8:g.12867872T>C | NCBI36 |
| NG_009292.1:g.9899T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.572T>C MANE Select | ENSP00000222214.4:p.Met191Thr | |
| ENST00000222214.9:c.572T>C | ENSP00000222214.4:p.Met191Thr | |
| ENST00000421816.6:n.550T>C | ||
| ENST00000585420.5:n.937T>C | ||
| ENST00000590530.5:c.*12T>C | ENSP00000468452.1:n.*12T>C | |
| ENST00000591043.1:n.608T>C | ||
| ENST00000591470.5:c.572T>C | ENSP00000466845.1:p.Met191Thr | |
| NM_000159.3:c.572T>C | NP_000150.1:p.Met191Thr | |
| NM_013976.3:c.572T>C | NP_039663.1:p.Met191Thr | |
| NR_102316.1:n.735T>C | ||
| NR_102317.1:n.988T>C | ||
| XM_006722721.2:c.572T>C | XP_006722784.1:p.Met191Thr | |
| XM_011527899.1:c.572T>C | XP_011526201.1:p.Met191Thr | |
| XM_011527900.1:c.572T>C | XP_011526202.1:p.Met191Thr | |
| XM_011527899.2:c.572T>C | XP_011526201.1:p.Met191Thr | |
| XM_011527900.2:c.572T>C | XP_011526202.1:p.Met191Thr | |
| XM_017026580.1:c.572T>C | XP_016882069.1:p.Met191Thr | |
| NM_000159.4:c.572T>C MANE Select | NP_000150.1:p.Met191Thr | |
| NM_013976.4:c.572T>C | NP_039663.1:p.Met191Thr | |
| NM_013976.5:c.572T>C | NP_039663.1:p.Met191Thr |