Linked Data
dbSNP Id:
rs1391449049
gnomAD v2:
19-38778456-T-C
gnomAD v3:
19-38287816-T-C
gnomAD v4:
19-38287816-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38287816T>C , CM000681.2:g.38287816T>C | GRCh38 |
| NC_000019.9:g.38778456T>C , CM000681.1:g.38778456T>C | GRCh37 |
| NC_000019.8:g.43470296T>C | NCBI36 |
| NG_013372.1:g.28359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301244.12:c.278-60T>C MANE Select | ENSP00000301244.5:n.278-60T>C | |
| ENST00000301244.11:c.278-60T>C | ENSP00000301244.5:n.278-60T>C | |
| ENST00000454580.7:c.107-60T>C | ENSP00000389788.2:n.107-60T>C | |
| ENST00000587090.5:c.128-60T>C | ENSP00000466407.1:n.128-60T>C | |
| ENST00000587516.5:c.278-1322T>C | ENSP00000465721.1:n.278-1322T>C | |
| ENST00000590210.1:n.475-60T>C | ||
| ENST00000590510.5:c.128-60T>C | ENSP00000465301.1:n.128-60T>C | |
| ENST00000592007.1:c.128-60T>C | ENSP00000465561.1:n.128-60T>C | |
| NM_001166103.1:c.107-60T>C | NP_001159575.1:n.107-60T>C | |
| NM_021102.3:c.278-60T>C | NP_066925.1:n.278-60T>C | |
| NM_021102.4:c.278-60T>C MANE Select | NP_066925.1:n.278-60T>C | |
| NM_001166103.2:c.107-60T>C | NP_001159575.1:n.107-60T>C |