Linked Data
dbSNP Id:
rs1484374820
gnomAD v2:
12-102153872-G-A
gnomAD v3:
12-101760094-G-A
gnomAD v4:
12-101760094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760094G>A , CM000674.2:g.101760094G>A | GRCh38 |
| NC_000012.11:g.102153872G>A , CM000674.1:g.102153872G>A | GRCh37 |
| NC_000012.10:g.100678003G>A | NCBI36 |
| NG_021243.1:g.75774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3185C>T MANE Select | ENSP00000299314.7:p.Pro1062Leu | |
| ENST00000299314.11:c.3185C>T | ENSP00000299314.7:p.Pro1062Leu | |
| ENST00000549194.1:n.51C>T | ||
| NM_024312.4:c.3185C>T | NP_077288.2:p.Pro1062Leu | |
| XM_006719593.2:c.3185C>T | XP_006719656.1:p.Pro1062Leu | |
| XM_011538731.1:c.3104C>T | XP_011537033.1:p.Pro1035Leu | |
| XM_006719593.3:c.3185C>T | XP_006719656.1:p.Pro1062Leu | |
| XM_011538731.2:c.3104C>T | XP_011537033.1:p.Pro1035Leu | |
| XM_017019961.1:c.2969C>T | XP_016875450.1:p.Pro990Leu | |
| XM_017019962.2:c.1958C>T | XP_016875451.1:p.Pro653Leu | |
| NM_024312.5:c.3185C>T MANE Select | NP_077288.2:p.Pro1062Leu |