Linked Data
ClinVar Variation Id:
1303129
ClinVar RCV Id:
RCV001756628
dbSNP Id:
rs893262278
gnomAD v2:
11-57373561-G-C
gnomAD v3:
11-57606088-G-C
gnomAD v4:
11-57606088-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606088G>C , CM000673.2:g.57606088G>C | GRCh38 |
| NC_000011.9:g.57373561G>C , CM000673.1:g.57373561G>C | GRCh37 |
| NC_000011.8:g.57130137G>C | NCBI36 |
| NG_009625.1:g.13535G>C , LRG_105:g.13535G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.764G>C MANE Select | ENSP00000278407.4:p.Ser255Thr | |
| ENST00000528996.2:c.59-5638G>C | ENSP00000431226.2:n.59-5638G>C | |
| ENST00000531605.2:c.*540G>C | ENSP00000503752.1:n.*540G>C | |
| ENST00000619430.2:c.686-320G>C | ENSP00000478572.2:n.686-320G>C | |
| ENST00000676670.1:c.764G>C | ENSP00000504807.1:p.Ser255Thr | |
| ENST00000676741.1:n.1846G>C | ||
| ENST00000677624.1:c.*184G>C | ENSP00000503979.1:n.*184G>C | |
| ENST00000677625.1:c.764G>C | ENSP00000502857.1:p.Ser255Thr | |
| ENST00000677856.1:n.823G>C | ||
| ENST00000677915.1:c.685+3919G>C | ENSP00000503118.1:n.685+3919G>C | |
| ENST00000678533.1:c.*318G>C | ENSP00000503873.1:n.*318G>C | |
| ENST00000678592.1:c.764G>C | ENSP00000504424.1:p.Ser255Thr | |
| ENST00000278407.8:c.764G>C | ENSP00000278407.4:p.Ser255Thr | |
| ENST00000340687.10:c.764G>C | ENSP00000341861.6:p.Ser255Thr | |
| ENST00000378323.8:c.779G>C | ENSP00000367574.4:p.Ser260Thr | |
| ENST00000378324.6:c.608G>C | ENSP00000367575.2:p.Ser203Thr | |
| ENST00000403558.1:c.866G>C | ENSP00000384420.1:p.Ser289Thr | |
| ENST00000531133.5:c.265G>C | ENSP00000435431.1:n.265G>C | |
| ENST00000531797.5:c.*54+3919G>C | ENSP00000432554.1:n.*54+3919G>C | |
| ENST00000619430.1:c.349-5817G>C | ENSP00000478572.1:n.349-5817G>C | |
| NM_000062.2:c.764G>C , LRG_105t1:c.764G>C | NP_000053.2:p.Ser255Thr | |
| NM_001032295.1:c.764G>C | NP_001027466.1:p.Ser255Thr | |
| NM_000062.3:c.764G>C MANE Select | NP_000053.2:p.Ser255Thr | |
| NM_001032295.2:c.764G>C | NP_001027466.1:p.Ser255Thr |