Linked Data
ClinVar Variation Id:
2047883
ClinVar RCV Id:
RCV002918378
dbSNP Id:
rs746397186
ExAC:
5:149772989 T / C
gnomAD v2:
5-149772989-T-C
gnomAD v3:
5-150393426-T-C
gnomAD v4:
5-150393426-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150393426T>C , CM000667.2:g.150393426T>C | GRCh38 |
| NC_000005.9:g.149772989T>C , CM000667.1:g.149772989T>C | GRCh37 |
| NC_000005.8:g.149753182T>C | NCBI36 |
| NG_011341.1:g.40788T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.3541T>C | ENSP00000390717.3:p.Ser1181Pro | |
| ENST00000643257.2:c.3658T>C MANE Select | ENSP00000493815.1:p.Ser1220Pro | |
| ENST00000650162.1:c.3313T>C | ENSP00000497075.1:p.Ser1105Pro | |
| ENST00000674413.1:c.3057T>C | ||
| ENST00000323668.11:c.3424T>C | ENSP00000325223.6:p.Ser1142Pro | |
| ENST00000377797.7:c.3655T>C | ENSP00000367028.4:p.Ser1219Pro | |
| ENST00000427724.6:c.3541T>C | ENSP00000390717.2:p.Ser1181Pro | |
| ENST00000439160.6:c.3544T>C | ENSP00000406888.2:p.Ser1182Pro | |
| ENST00000445265.6:c.3427T>C | ENSP00000409944.2:p.Ser1143Pro | |
| ENST00000504761.6:c.3655T>C | ENSP00000421655.2:p.Ser1219Pro | |
| ENST00000513346.5:c.3655T>C | ENSP00000427484.1:p.Ser1219Pro | |
| ENST00000514442.5:n.3705T>C | ||
| ENST00000515516.1:c.343-3317T>C | ENSP00000426471.1:n.343-3317T>C | |
| NM_000356.3:c.3424T>C | NP_000347.2:p.Ser1142Pro | |
| NM_001135243.1:c.3655T>C | NP_001128715.1:p.Ser1219Pro | |
| NM_001135244.1:c.3544T>C | NP_001128716.1:p.Ser1182Pro | |
| NM_001135245.1:c.3427T>C | NP_001128717.1:p.Ser1143Pro | |
| NM_001195141.1:c.3541T>C | NP_001182070.1:p.Ser1181Pro | |
| XM_005268502.2:c.3769T>C | XP_005268559.1:p.Ser1257Pro | |
| XM_005268503.2:c.3766T>C | XP_005268560.1:p.Ser1256Pro | |
| XM_005268504.2:c.3766T>C | XP_005268561.1:p.Ser1256Pro | |
| XM_005268505.2:c.3658T>C | XP_005268562.1:p.Ser1220Pro | |
| XM_005268506.2:c.3655T>C | XP_005268563.1:p.Ser1219Pro | |
| XM_005268507.2:c.3538T>C | XP_005268564.1:p.Ser1180Pro | |
| XM_011537678.1:c.3589T>C | XP_011535980.1:p.Ser1197Pro | |
| XR_427778.1:n.3773T>C | ||
| XR_427780.1:n.3662T>C | ||
| XM_005268502.4:c.3769T>C | XP_005268559.1:p.Ser1257Pro | |
| XM_005268503.4:c.3766T>C | XP_005268560.1:p.Ser1256Pro | |
| XM_005268504.4:c.3766T>C | XP_005268561.1:p.Ser1256Pro | |
| XM_005268505.4:c.3658T>C | XP_005268562.1:p.Ser1220Pro | |
| XM_005268506.4:c.3655T>C | XP_005268563.1:p.Ser1219Pro | |
| XM_005268507.4:c.3538T>C | XP_005268564.1:p.Ser1180Pro | |
| XM_011537678.3:c.3589T>C | XP_011535980.1:p.Ser1197Pro | |
| XM_017009792.2:c.3652T>C | XP_016865281.1:p.Ser1218Pro | |
| XM_017009793.2:c.3478T>C | XP_016865282.1:p.Ser1160Pro | |
| XM_017009794.2:c.3364T>C | XP_016865283.1:p.Ser1122Pro | |
| XR_427778.3:n.3775T>C | ||
| XR_427780.3:n.3664T>C | ||
| NM_000356.4:c.3424T>C | NP_000347.2:p.Ser1142Pro | |
| NM_001135244.2:c.3544T>C | NP_001128716.1:p.Ser1182Pro | |
| NM_001135245.2:c.3427T>C | NP_001128717.1:p.Ser1143Pro | |
| NM_001195141.2:c.3541T>C | NP_001182070.1:p.Ser1181Pro | |
| NM_001371623.1:c.3658T>C MANE Select | NP_001358552.1:p.Ser1220Pro | |
| NM_001135243.2:c.3655T>C | NP_001128715.1:p.Ser1219Pro |