Linked Data
dbSNP Id:
rs11897432
gnomAD v2:
2-43817505-G-A
gnomAD v3:
2-43590366-G-A
gnomAD v4:
2-43590366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43590366G>A , CM000664.2:g.43590366G>A | GRCh38 |
| NC_000002.11:g.43817505G>A , CM000664.1:g.43817505G>A | GRCh37 |
| NC_000002.10:g.43671009G>A | NCBI36 |
| NG_051580.1:g.10681C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405975.7:c.302+458C>T MANE Select | ENSP00000386088.2:n.302+458C>T | |
| ENST00000398653.5:c.302+458C>T | ENSP00000381647.1:n.302+458C>T | |
| ENST00000402360.6:c.302+458C>T | ENSP00000385441.2:n.302+458C>T | |
| ENST00000403856.1:c.302+458C>T | ENSP00000385469.1:n.302+458C>T | |
| ENST00000404790.5:c.302+458C>T | ENSP00000384266.1:n.302+458C>T | |
| ENST00000405006.8:c.302+458C>T | ENSP00000385995.4:n.302+458C>T | |
| ENST00000405975.6:c.302+458C>T | ENSP00000386088.2:n.302+458C>T | |
| ENST00000408045.7:c.302+458C>T | ENSP00000384172.2:n.302+458C>T | |
| ENST00000474159.6:c.302+458C>T | ENSP00000445294.1:n.302+458C>T | |
| NM_001083953.1:c.302+458C>T | NP_001077422.1:n.302+458C>T | |
| NM_001271643.1:c.302+458C>T | NP_001258572.1:n.302+458C>T | |
| NM_001271644.1:c.302+458C>T | NP_001258573.1:n.302+458C>T | |
| NM_022065.4:c.302+458C>T | NP_071348.3:n.302+458C>T | |
| NR_073394.1:n.442+458C>T | ||
| XM_006712061.2:c.302+458C>T | XP_006712124.1:n.302+458C>T | |
| XM_006712062.1:c.302+458C>T | XP_006712125.1:n.302+458C>T | |
| XM_006712063.1:c.302+458C>T | XP_006712126.1:n.302+458C>T | |
| XM_006712064.1:c.302+458C>T | XP_006712127.1:n.302+458C>T | |
| XM_006712065.1:c.302+458C>T | XP_006712128.1:n.302+458C>T | |
| XM_006712066.1:c.302+458C>T | XP_006712129.1:n.302+458C>T | |
| XM_006712067.1:c.302+458C>T | XP_006712130.1:n.302+458C>T | |
| XM_006712068.2:c.302+458C>T | XP_006712131.1:n.302+458C>T | |
| XM_011533015.1:c.302+458C>T | XP_011531317.1:n.302+458C>T | |
| NM_001345923.1:c.302+458C>T | NP_001332852.1:n.302+458C>T | |
| NM_001345924.1:c.302+458C>T | NP_001332853.1:n.302+458C>T | |
| NM_001345925.1:c.302+458C>T | NP_001332854.1:n.302+458C>T | |
| NR_144316.1:n.442+458C>T | ||
| XM_006712064.2:c.302+458C>T | XP_006712127.1:n.302+458C>T | |
| XM_006712068.3:c.302+458C>T | XP_006712131.1:n.302+458C>T | |
| XM_011533015.3:c.302+458C>T | XP_011531317.1:n.302+458C>T | |
| XM_017004675.1:c.-2176+458C>T | XP_016860164.1:n.-2176+458C>T | |
| NM_001271643.2:c.302+458C>T | NP_001258572.1:n.302+458C>T | |
| NM_001271644.2:c.302+458C>T | NP_001258573.1:n.302+458C>T | |
| NM_001083953.2:c.302+458C>T | NP_001077422.1:n.302+458C>T | |
| NM_001345923.2:c.302+458C>T | NP_001332852.1:n.302+458C>T | |
| NM_001345924.2:c.302+458C>T | NP_001332853.1:n.302+458C>T | |
| NM_001345925.2:c.302+458C>T | NP_001332854.1:n.302+458C>T | |
| NM_022065.5:c.302+458C>T MANE Select | NP_071348.3:n.302+458C>T | |
| NR_073394.2:n.434+458C>T | ||
| NR_144316.2:n.434+458C>T |