Linked Data
ClinVar Variation Id:
2962697
ClinVar RCV Id:
RCV003827807
dbSNP Id:
rs748066258
ExAC:
11:9225504 C / A
gnomAD v2:
11-9225504-C-A
gnomAD v3:
11-9203957-C-A
gnomAD v4:
11-9203957-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9203957C>A , CM000673.2:g.9203957C>A | GRCh38 |
| NC_000011.9:g.9225504C>A , CM000673.1:g.9225504C>A | GRCh37 |
| NC_000011.8:g.9182080C>A | NCBI36 |
| NG_053019.1:g.66379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.652G>T MANE Select | ENSP00000328524.3:p.Ala218Ser | |
| ENST00000530780.2:c.*478G>T | ENSP00000433925.1:n.*478G>T | |
| ENST00000530867.2:n.441G>T | ||
| ENST00000532696.2:n.575G>T | ||
| ENST00000679446.1:n.573G>T | ||
| ENST00000679460.1:n.441G>T | ||
| ENST00000679568.1:c.652G>T | ENSP00000505860.1:p.Ala218Ser | |
| ENST00000679745.1:n.441G>T | ||
| ENST00000679999.1:c.652G>T | ENSP00000505198.1:p.Ala218Ser | |
| ENST00000680252.1:c.441G>T | ||
| ENST00000680294.1:c.652G>T | ENSP00000506113.1:p.Ala218Ser | |
| ENST00000680470.1:c.652G>T | ENSP00000505975.1:p.Ala218Ser | |
| ENST00000680554.1:c.364G>T | ENSP00000505621.1:p.Ala122Ser | |
| ENST00000680576.1:n.441G>T | ||
| ENST00000680599.1:n.569G>T | ||
| ENST00000680742.1:c.652G>T | ENSP00000505206.1:p.Ala218Ser | |
| ENST00000680885.1:n.573G>T | ||
| ENST00000681158.1:c.441G>T | ||
| ENST00000681173.1:n.441G>T | ||
| ENST00000681203.1:c.580G>T | ENSP00000506456.1:p.Ala194Ser | |
| ENST00000681425.1:n.573G>T | ||
| ENST00000681915.1:n.441G>T | ||
| ENST00000328194.7:c.652G>T | ENSP00000328524.3:p.Ala218Ser | |
| ENST00000526707.5:c.580G>T | ENSP00000436780.1:p.Ala194Ser | |
| ENST00000530044.5:c.652G>T | ENSP00000435866.1:p.Ala218Ser | |
| ENST00000532696.1:n.407G>T | ||
| NM_001243254.1:c.652G>T | NP_001230183.1:p.Ala218Ser | |
| NM_015213.3:c.652G>T | NP_056028.2:p.Ala218Ser | |
| XM_005252832.1:c.652G>T | XP_005252889.1:p.Ala218Ser | |
| XM_011519952.1:c.652G>T | XP_011518254.1:p.Ala218Ser | |
| XR_242782.2:n.917G>T | ||
| XR_930851.1:n.917G>T | ||
| XR_930852.1:n.917G>T | ||
| XR_930853.1:n.917G>T | ||
| NM_001348749.1:c.580G>T | NP_001335678.1:p.Ala194Ser | |
| NM_001348750.1:c.364G>T | NP_001335679.1:p.Ala122Ser | |
| NR_145966.2:n.909G>T | ||
| NM_015213.4:c.652G>T MANE Select | NP_056028.2:p.Ala218Ser | |
| NM_001243254.2:c.652G>T | NP_001230183.1:p.Ala218Ser | |
| NM_001348749.2:c.580G>T | NP_001335678.1:p.Ala194Ser | |
| NM_001348750.2:c.364G>T | NP_001335679.1:p.Ala122Ser |