Linked Data
ClinVar Variation Id:
391136
ClinVar RCV Id:
RCV000967003
dbSNP Id:
rs73473595
ExAC:
6:70991087 A / G
gnomAD v2:
6-70991087-A-G
gnomAD v3:
6-70281384-A-G
gnomAD v4:
6-70281384-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70281384A>G , CM000668.2:g.70281384A>G | GRCh38 |
| NC_000006.11:g.70991087A>G , CM000668.1:g.70991087A>G | GRCh37 |
| NC_000006.10:g.71047808A>G | NCBI36 |
| NG_011654.1:g.26700T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683980.2:c.147+6T>C | ENSP00000506990.1:n.147+6T>C | |
| ENST00000683758.1:c.147+6T>C | ENSP00000508147.1:n.147+6T>C | |
| ENST00000683980.1:c.147+6T>C | ENSP00000506990.1:n.147+6T>C | |
| ENST00000684176.1:n.218+6T>C | ||
| ENST00000320755.12:c.147+6T>C | ENSP00000315252.7:n.147+6T>C | |
| ENST00000357250.11:c.876+6T>C MANE Select | ENSP00000349790.6:n.876+6T>C | |
| ENST00000644493.1:c.147+6T>C | ENSP00000495638.1:n.147+6T>C | |
| ENST00000320755.11:c.147+6T>C | ENSP00000315252.7:n.147+6T>C | |
| ENST00000357250.10:c.876+6T>C | ENSP00000349790.6:n.876+6T>C | |
| ENST00000370496.3:c.876+6T>C | ENSP00000359527.3:n.876+6T>C | |
| NM_001851.4:c.876+6T>C | NP_001842.3:n.876+6T>C | |
| NM_078485.3:c.147+6T>C | NP_511040.2:n.147+6T>C | |
| XM_011535429.1:c.876+6T>C | XP_011533731.1:n.876+6T>C | |
| XM_011535430.1:c.147+6T>C | XP_011533732.1:n.147+6T>C | |
| XM_011535429.3:c.876+6T>C | XP_011533731.1:n.876+6T>C | |
| XM_011535430.3:c.147+6T>C | XP_011533732.1:n.147+6T>C | |
| XM_017010246.2:c.327+6T>C | XP_016865735.1:n.327+6T>C | |
| NM_001377289.1:c.147+6T>C | NP_001364218.1:n.147+6T>C | |
| NM_001377290.1:c.147+6T>C | NP_001364219.1:n.147+6T>C | |
| NM_001377291.1:c.876+6T>C | NP_001364220.1:n.876+6T>C | |
| NM_001851.5:c.876+6T>C | NP_001842.3:n.876+6T>C | |
| NM_078485.4:c.147+6T>C | NP_511040.2:n.147+6T>C | |
| NR_165185.1:n.292+6T>C | ||
| NM_001851.6:c.876+6T>C MANE Select | NP_001842.3:n.876+6T>C |