Linked Data
ClinVar Variation Id:
2743
dbSNP Id:
rs121918288
ExAC:
11:61719400 T / C
gnomAD v2:
11-61719400-T-C
gnomAD v3:
11-61951928-T-C
gnomAD v4:
11-61951928-T-C
PubMed:
PMID:18179881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61951928T>C , CM000673.2:g.61951928T>C | GRCh38 |
| NC_000011.9:g.61719400T>C , CM000673.1:g.61719400T>C | GRCh37 |
| NC_000011.8:g.61475976T>C | NCBI36 |
| NG_009033.1:g.7045T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.122T>C MANE Select | ENSP00000367282.4:p.Leu41Pro | |
| ENST00000378043.8:c.122T>C | ENSP00000367282.4:p.Leu41Pro | |
| ENST00000449131.6:c.-29+1501T>C | ENSP00000399709.2:n.-29+1501T>C | |
| ENST00000524877.5:n.68+1501T>C | ||
| ENST00000524926.5:c.122T>C | ENSP00000432681.1:p.Leu41Pro | |
| ENST00000529265.5:n.75+1501T>C | ||
| ENST00000533521.5:n.230T>C | ||
| ENST00000534553.5:c.-212+1501T>C | ENSP00000431189.1:n.-212+1501T>C | |
| NM_001139443.1:c.-29+1501T>C | NP_001132915.1:n.-29+1501T>C | |
| NM_001300786.1:c.-29+1501T>C | NP_001287715.1:n.-29+1501T>C | |
| NM_001300787.1:c.-29+1501T>C | NP_001287716.1:n.-29+1501T>C | |
| NM_004183.3:c.122T>C | NP_004174.1:p.Leu41Pro | |
| XM_005274210.2:c.122T>C | XP_005274267.1:p.Leu41Pro | |
| XM_005274216.2:c.-29+1501T>C | XP_005274273.1:n.-29+1501T>C | |
| XM_005274218.3:c.-212+1501T>C | XP_005274275.1:n.-212+1501T>C | |
| XM_005274219.2:c.122T>C | XP_005274276.1:p.Leu41Pro | |
| XM_005274221.2:c.122T>C | XP_005274278.1:p.Leu41Pro | |
| XM_011545229.1:c.122T>C | XP_011543531.1:p.Leu41Pro | |
| XM_011545230.1:c.60-3179T>C | XP_011543532.1:n.60-3179T>C | |
| XM_011545231.1:c.-212+1501T>C | XP_011543533.1:n.-212+1501T>C | |
| XM_011545232.1:c.122T>C | XP_011543534.1:p.Leu41Pro | |
| NM_001363592.1:c.122T>C | NP_001350521.1:p.Leu41Pro | |
| NR_134580.1:n.702T>C | ||
| XM_005274210.4:c.122T>C | XP_005274267.1:p.Leu41Pro | |
| XM_005274216.4:c.-29+1501T>C | XP_005274273.1:n.-29+1501T>C | |
| XM_005274219.4:c.122T>C | XP_005274276.1:p.Leu41Pro | |
| XM_005274221.4:c.122T>C | XP_005274278.1:p.Leu41Pro | |
| XM_011545229.3:c.122T>C | XP_011543531.1:p.Leu41Pro | |
| XM_011545230.3:c.60-3179T>C | XP_011543532.1:n.60-3179T>C | |
| XR_001747952.2:n.650+1501T>C | ||
| XR_001747953.2:n.812T>C | ||
| XR_001747954.2:n.812T>C | ||
| NM_004183.4:c.122T>C MANE Select | NP_004174.1:p.Leu41Pro | |
| NM_001139443.2:c.-29+1501T>C | NP_001132915.1:n.-29+1501T>C | |
| NM_001300786.2:c.-29+1501T>C | NP_001287715.1:n.-29+1501T>C | |
| NM_001300787.2:c.-29+1501T>C | NP_001287716.1:n.-29+1501T>C | |
| NR_134580.2:n.235T>C |