Linked Data
dbSNP Id:
rs775896190
ExAC:
19:7125480 G / GTCA
gnomAD v2:
19-7125480-G-GTCA
gnomAD v4:
19-7125469-G-GTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125469_7125470insTCA , CM000681.2:g.7125469_7125470insTCA | GRCh38 |
| NC_000019.9:g.7125480_7125481insTCA , CM000681.1:g.7125480_7125481insTCA | GRCh37 |
| NC_000019.8:g.7076480_7076481insTCA | NCBI36 |
| NG_008852.2:g.173531_173532insTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3071_3072insTGA MANE Select | ENSP00000303830.4:p.Thr1024_Leu1025insAsp | |
| ENST00000302850.9:c.3071_3072insTGA | ENSP00000303830.4:p.Thr1024_Leu1025insAsp | |
| ENST00000341500.9:c.3035_3036insTGA | ENSP00000342838.4:p.Thr1012_Leu1013insAsp | |
| NM_000208.2:c.3071_3072insTGA | NP_000199.2:p.Thr1024_Leu1025insAsp | |
| NM_000208.3:c.3071_3072insTGA | NP_000199.2:p.Thr1024_Leu1025insAsp | |
| NM_001079817.1:c.3035_3036insTGA | NP_001073285.1:p.Thr1012_Leu1013insAsp | |
| NM_001079817.2:c.3035_3036insTGA | NP_001073285.1:p.Thr1012_Leu1013insAsp | |
| XM_011527988.1:c.3146_3147insTGA | XP_011526290.1:p.Thr1049_Leu1050insAsp | |
| XM_011527989.1:c.3110_3111insTGA | XP_011526291.1:p.Thr1037_Leu1038insAsp | |
| XM_011527988.2:c.3068_3069insTGA | XP_011526290.2:p.Thr1023_Leu1024insAsp | |
| XM_011527989.3:c.3032_3033insTGA | XP_011526291.2:p.Thr1011_Leu1012insAsp | |
| NM_000208.4:c.3071_3072insTGA MANE Select | NP_000199.2:p.Thr1024_Leu1025insAsp | |
| NM_001079817.3:c.3035_3036insTGA | NP_001073285.1:p.Thr1012_Leu1013insAsp |