Linked Data
dbSNP Id:
rs10414149
gnomAD v2:
19-52127744-A-G
gnomAD v3:
19-51624491-A-G
gnomAD v4:
19-51624491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51624491A>G , CM000681.2:g.51624491A>G | GRCh38 |
| NC_000019.9:g.52127744A>G , CM000681.1:g.52127744A>G | GRCh37 |
| NC_000019.8:g.56819556A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683636.1:c.1464+1541T>C MANE Select | ENSP00000507738.1:n.1464+1541T>C | |
| ENST00000429354.3:c.1464+1541T>C | ENSP00000415200.2:n.1464+1541T>C | |
| ENST00000534261.3:c.1464+1541T>C | ENSP00000473238.1:n.1464+1541T>C | |
| ENST00000570106.6:c.1464+1541T>C | ENSP00000455510.2:n.1464+1541T>C | |
| ENST00000599649.5:c.1464+1541T>C | ENSP00000470259.1:n.1464+1541T>C | |
| NM_003830.3:c.1464+1541T>C | NP_003821.1:n.1464+1541T>C | |
| XM_011527438.1:c.1382+2658T>C | XP_011525740.1:n.1382+2658T>C | |
| XM_011527438.2:c.1382+2658T>C | XP_011525740.1:n.1382+2658T>C | |
| XM_017027419.1:c.1491+1541T>C | XP_016882908.1:n.1491+1541T>C | |
| NM_001384708.1:c.1382+2658T>C | NP_001371637.1:n.1382+2658T>C | |
| NM_001384709.1:c.1179+1541T>C | NP_001371638.1:n.1179+1541T>C | |
| NM_003830.4:c.1464+1541T>C MANE Select | NP_003821.1:n.1464+1541T>C |